Download - DDx for an RP-like Fundus
![Page 1: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/1.jpg)
1
In my teaching experience, this is one of the more challenging topics in ophthalmology. (The corneal dystrophies are up there too.) While I won’t say this set makes learning the material easy—there’s simply too much esoterica for that—I do think it makes it easier. My point here is not to toot my own horn, but rather to give hope and encouragement—you can master this topic!
My advice: In prepping for the OKAP, try to run through this slide-set once or twice a month. When you reach the final, frantic few weeks of cramming, don’t wade through the whole thing—just do the tl;dr at the end (it starts around slide 315).
Now, let’s get this bread!
DDx for an RP-like Fundus
![Page 2: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/2.jpg)
2
First things first. An RP-like fundus has three characteristic attributes. What are they?------
DDx for an RP-like Fundus
![Page 3: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/3.jpg)
3
First things first. An RP-like fundus has three characteristic attributes. What are they?--Bone spicules--Waxy disc pallor--Arteriolar narrowing
DDx for an RP-like Fundus
![Page 4: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/4.jpg)
RP
DDx for an RP-like Fundus
![Page 5: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/5.jpg)
5
First things first. An RP-like fundus has three characteristic attributes. What are they?--Bone spicules--Waxy disc pallor--Arteriolar narrowing
What two vision issues are the defining characteristics of RP?----
DDx for an RP-like Fundus
![Page 6: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/6.jpg)
6
First things first. An RP-like fundus has three characteristic attributes. What are they?--Bone spicules--Waxy disc pallor--Arteriolar narrowing
What two vision issues are the defining characteristics of RP?--Nyctalopia--Visual field loss
DDx for an RP-like Fundus
![Page 7: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/7.jpg)
Typical pattern of VF loss in RP: Mid-peripheral scotomata coalesce into partial rings coalesce into complete ring expand rapidly outward expand slowly inward
DDx for an RP-like Fundus
![Page 8: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/8.jpg)
8
First things first. An RP-like fundus has three characteristic attributes. What are they?--Bone spicules--Waxy disc pallor--Arteriolar narrowing
What two vision issues are the defining characteristics of RP?--Nyctalopia--Visual field loss
Results of what specialized testing modality are always abnormal in RP?
DDx for an RP-like Fundus
![Page 9: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/9.jpg)
9
First things first. An RP-like fundus has three characteristic attributes. What are they?--Bone spicules--Waxy disc pallor--Arteriolar narrowing
What two vision issues are the defining characteristics of RP?--Nyctalopia--Visual field loss
Results of what specialized testing modality are always abnormal in RP?Electroretinogram (ERG)
DDx for an RP-like Fundus
![Page 10: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/10.jpg)
b-wave
a-wave
Normal ERG
a-wave
Early RP
b-wave
Late RP
‘b-wave’
‘a-wave’
Characteristic ERG changes in RP:--Early: Reduced a and b waves--Late: Undetectable
DDx for an RP-like Fundus
![Page 11: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/11.jpg)
11
First things first. An RP-like fundus has three characteristic attributes. What are they?--Bone spicules--Waxy disc pallor--Arteriolar narrowing
What two vision issues are the defining characteristics of RP?--Nyctalopia--Visual field loss
Results of what specialized testing modality are always abnormal in RP?Electroretinogram (ERG)
These are the defining features of RP
DDx for an RP-like Fundus
![Page 12: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/12.jpg)
12
These next few slides lay out the overall way you should think about an RP-like fundus (especially on the OKAP/Boards)
DDx for an RP-like Fundus
![Page 13: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/13.jpg)
?
13
??
When a pt’s fundi have an RP-like appearance, one of three things is going on:1)2)3)
DDx for an RP-like Fundus
![Page 14: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/14.jpg)
14
When a pt’s fundi have an RP-like appearance, one of three things is going on:1) The pt has RP (duh)2) 3)
Primary RP(aka typical RP)
??
DDx for an RP-like Fundus
![Page 15: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/15.jpg)
15
Secondary RP(aka Complex RP; Syndromic RP)
When a pt’s fundi have an RP-like appearance, one of three things is going on:1) The pt has RP; or2) s/he has a systemic condition in which retinal manifestations c/w RP occur3)
Primary RP(aka typical RP)
?
DDx for an RP-like Fundus
![Page 16: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/16.jpg)
‘Pseudo-RP’
16
Secondary RP(aka Complex RP; Syndromic RP)
When a pt’s fundi have an RP-like appearance, one of three things is going on:1) The pt has RP; or2) s/he has a systemic condition in which retinal manifestations c/w RP occur; or3) s/he has a condition that has nothing to do with RP--it just happens to have a similar appearance
Primary RP(aka typical RP)
DDx for an RP-like Fundus
![Page 17: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/17.jpg)
‘Pseudo-RP’
17
Secondary RP(aka Complex RP; Syndromic RP)
Primary RP(aka typical RP)
For more on RP itself, see slide-set R38
DDx for an RP-like Fundus
![Page 18: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/18.jpg)
‘Pseudo-RP’
18
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
(the most common syndromic association)
(one of the ‘inborn errors of metabolism’ families)
(a family of neurodegenerative diseases)
(a family of diseases related to dysfunction of a ubiquitous organelle)
(a disorder of fat metabolism)
DDx for an RP-like Fundus
![Page 19: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/19.jpg)
‘Pseudo-RP’
19
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
DDx for an RP-like Fundus
![Page 20: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/20.jpg)
‘Pseudo-RP’
20
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
eponym
eponym-eponym
DDx for an RP-like Fundus
![Page 21: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/21.jpg)
‘Pseudo-RP’
21
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
DDx for an RP-like Fundus
![Page 22: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/22.jpg)
‘Pseudo-RP’
22
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three subtypes of Usher syndrome--what are they called? How do they differ?--Type I manifests in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has progressive hearing loss; the RP varies in severity; vestibular function is sporadic
two words
DDx for an RP-like Fundus
![Page 23: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/23.jpg)
‘Pseudo-RP’
23
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three subtypes of Usher syndrome--what are they called? How do they differ?--Type I manifests in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has progressive hearing loss; the RP varies in severity; vestibular function is sporadic
DDx for an RP-like Fundus
![Page 24: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/24.jpg)
‘Pseudo-RP’
24
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three subtypes of Usher syndrome--what are they called? How do they differ?--Type I manifests in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has progressive hearing loss; the RP varies in severity; vestibular function is sporadic
DDx for an RP-like Fundus
![Page 25: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/25.jpg)
‘Pseudo-RP’
25
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three subtypes of Usher syndrome--what are they called? How do they differ?--Type I manifests in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has progressive hearing loss; the RP varies in severity; vestibular function is sporadic
DDx for an RP-like Fundus
![Page 26: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/26.jpg)
‘Pseudo-RP’
26
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they differ?--Type I manifests in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has progressive hearing loss; the RP varies in severity; vestibular function is sporadic
DDx for an RP-like Fundus
![Page 27: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/27.jpg)
‘Pseudo-RP’
27
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they differ?--Type I manifests in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has progressive hearing loss; the RP varies in severity; vestibular function is sporadic
DDx for an RP-like Fundus
![Page 28: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/28.jpg)
‘Pseudo-RP’
28
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they manifest?--Type I manifests…in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests…in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has… progressive hearing loss; the RP varies in severity; vestibular function is sporadic
DDx for an RP-like Fundus
![Page 29: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/29.jpg)
‘Pseudo-RP’
29
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they manifest?--Type I manifests…in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests…in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has… progressive hearing loss; the RP varies in severity; vestibular function is sporadic
severity
DDx for an RP-like Fundus
![Page 30: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/30.jpg)
‘Pseudo-RP’
30
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they manifest?--Type I manifests…in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests…in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has… progressive hearing loss; the RP varies in severity; vestibular function is sporadic
DDx for an RP-like Fundus
![Page 31: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/31.jpg)
‘Pseudo-RP’
31
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they manifest?--Type I manifests…in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests…in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has… progressive hearing loss; the RP varies in severity; vestibular function is sporadic
DDx for an RP-like Fundus
![Page 32: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/32.jpg)
‘Pseudo-RP’
32
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they manifest?--Type I manifests…in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests…in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has… progressive hearing loss; the RP varies in severity; vestibular function is sporadic
severity status
DDx for an RP-like Fundus
![Page 33: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/33.jpg)
‘Pseudo-RP’
33
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they manifest?--Type I manifests…in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests…in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has… progressive hearing loss; the RP varies in severity; vestibular function is sporadic
DDx for an RP-like Fundus
![Page 34: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/34.jpg)
‘Pseudo-RP’
34
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they manifest?--Type I manifests…in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests…in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has… progressive hearing loss; the RP varies in severity; vestibular function is sporadic
DDx for an RP-like Fundus
![Page 35: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/35.jpg)
‘Pseudo-RP’
35
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they manifest?--Type I manifests…in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests…in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has…progressive hearing loss; the RP varies in severity; vestibular function is sporadicseverity?
DDx for an RP-like Fundus
![Page 36: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/36.jpg)
‘Pseudo-RP’
36
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they manifest?--Type I manifests…in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests…in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has…progressive hearing loss; the RP varies in severity; vestibular function is sporadic
DDx for an RP-like Fundus
![Page 37: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/37.jpg)
‘Pseudo-RP’
37
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
Usher syndrome = Retinitis pigmentosa + sensorineural deafness
Where does Usher syndrome rank as a cause of deaf-blindness in the US?It is the most common cause thereof
There are three types of Usher syndrome--what are they called? How do they manifest?--Type I manifests…in the first decade with profound hearing loss, RP and vestibular dysfunction--Type II manifests…in the second decade with moderate hearing loss, RP; vestibular function is intact--Type III has…progressive hearing loss; the RP varies in severity; vestibular function is sporadic
Usher syndrome tl;dr= RP + hearing loss +/- vestibular dysfunction--Type I early, severe--Type II later, less severe--Type III variable
DDx for an RP-like Fundus
![Page 38: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/38.jpg)
‘Pseudo-RP’
38
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
What are peroxisomal disorders?A heterogeneous group of disorders of peroxisome function
What is/are peroxisomes?Intracellular organelles that play key roles in many aspects of cell metabolism
What is the hallmark lab abnormality of the peroxisomal disorders that present with LCA? Abnormally high serum levels of very long chain fatty acids (VLCFA)
What specific peroxisomal disorders can manifest an LCA-type presentation?--Zellweger syndrome--Neonatal adrenoleukodystrophy (NALD)--Infantile Refsum dz
DDx for an RP-like Fundus
![Page 39: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/39.jpg)
‘Pseudo-RP’
39
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
What are peroxisomal disorders?A heterogeneous group of disorders of peroxisome function
What is/are peroxisomes?Intracellular organelles that play key roles in many aspects of cell metabolism
What is the hallmark lab abnormality of the peroxisomal disorders that present with LCA? Abnormally high serum levels of very long chain fatty acids (VLCFA)
What specific peroxisomal disorders can manifest an LCA-type presentation?--Zellweger syndrome--Neonatal adrenoleukodystrophy (NALD)--Infantile Refsum dz
DDx for an RP-like Fundus
![Page 40: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/40.jpg)
‘Pseudo-RP’
40
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
What are peroxisomal disorders?A heterogeneous group of disorders of peroxisome function
What is/are peroxisomes?Intracellular organelles that play key roles in many aspects of cell metabolism
What is the hallmark lab abnormality of the peroxisomal disorders that present with LCA? Abnormally high serum levels of very long chain fatty acids (VLCFA)
What specific peroxisomal disorders can manifest an LCA-type presentation?--Zellweger syndrome--Neonatal adrenoleukodystrophy (NALD)--Infantile Refsum dz
DDx for an RP-like Fundus
![Page 41: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/41.jpg)
‘Pseudo-RP’
41
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
What are peroxisomal disorders?A heterogeneous group of disorders of peroxisome function
What is/are peroxisomes?Intracellular organelles that play key roles in many aspects of cell metabolism
What is the hallmark lab abnormality of the peroxisomal disorders that present with LCA? Abnormally high serum levels of very long chain fatty acids (VLCFA)
What specific peroxisomal disorders can manifest an LCA-type presentation?--Zellweger syndrome--Neonatal adrenoleukodystrophy (NALD)--Infantile Refsum dz
DDx for an RP-like Fundus
![Page 42: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/42.jpg)
‘Pseudo-RP’
42
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
What are peroxisomal disorders?A heterogeneous group of disorders of peroxisome function
What is/are peroxisomes?Intracellular organelles that play key roles in many aspects of cell metabolism
What is the hallmark lab abnormality of the peroxisomal disorders that present with LCA? Abnormally high serum levels of very long chain fatty acids (VLCFA)
What specific peroxisomal disorders can manifest an LCA-type presentation?--Zellweger syndrome--Neonatal adrenoleukodystrophy (NALD)--Infantile Refsum dz
(LCA = Leber’s congenital amaurosis, an age-related form of RP)
DDx for an RP-like Fundus
![Page 43: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/43.jpg)
‘Pseudo-RP’
43
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
What are peroxisomal disorders?A heterogeneous group of disorders of peroxisome function
What is/are peroxisomes?Intracellular organelles that play key roles in many aspects of cell metabolism
What is the hallmark lab abnormality of the peroxisomal disorders that present with LCA? Abnormally high serum levels of very long chain fatty acids (VLCFA)
What specific peroxisomal disorders can manifest an LCA-type presentation?--Zellweger syndrome--Neonatal adrenoleukodystrophy (NALD)--Infantile Refsum dz
DDx for an RP-like Fundus
![Page 44: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/44.jpg)
‘Pseudo-RP’
44
Primary RP(aka typical RP)
--?--?--?
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
What are peroxisomal disorders?A heterogeneous group of disorders of peroxisome function
What is/are peroxisomes?Intracellular organelles that play key roles in many aspects of cell metabolism
What is the hallmark lab abnormality of the peroxisomal disorders that present with LCA? Abnormally high serum levels of very long chain fatty acids (VLCFA)
What specific peroxisomal disorders can manifest an LCA-type presentation?------
(Three specific disorders)
DDx for an RP-like Fundus
![Page 45: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/45.jpg)
‘Pseudo-RP’
45
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
(Three specific disorders)
What are peroxisomal disorders?A heterogeneous group of disorders of peroxisome function
What is/are peroxisomes?Intracellular organelles that play key roles in many aspects of cell metabolism
What is the hallmark lab abnormality of the peroxisomal disorders that present with LCA? Abnormally high serum levels of very long chain fatty acids (VLCFA)
What specific peroxisomal disorders can manifest an LCA-type presentation?--Zellweger syndrome--Neonatal adrenoleukodystrophy (NALD)--Infantile Refsum dz
DDx for an RP-like Fundus
![Page 46: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/46.jpg)
‘Pseudo-RP’
46
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--LCA--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
DDx for an RP-like Fundus
![Page 47: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/47.jpg)
‘Pseudo-RP’
47
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--LCA--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
DDx for an RP-like Fundus
![Page 48: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/48.jpg)
‘Pseudo-RP’
48
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--LCA--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
DDx for an RP-like Fundus
![Page 49: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/49.jpg)
‘Pseudo-RP’
49
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--LCA--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
DDx for an RP-like Fundus
![Page 50: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/50.jpg)
‘Pseudo-RP’
50
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--LCA--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
DDx for an RP-like Fundus
![Page 51: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/51.jpg)
‘Pseudo-RP’
51
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:----------
What is the prognosis?It is uniformly fatal by age 1 year
‘age’
DDx for an RP-like Fundus
![Page 52: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/52.jpg)
‘Pseudo-RP’
52
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--?--?--?--?--?
What is the prognosis?It is uniformly fatal by age 1 year
DDx for an RP-like Fundus
![Page 53: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/53.jpg)
‘Pseudo-RP’
53
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
DDx for an RP-like Fundus
![Page 54: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/54.jpg)
54
Zellweger syndrome facies: High forehead; hypertelorism
DDx for an RP-like Fundus
![Page 55: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/55.jpg)
‘Pseudo-RP’
55
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
DDx for an RP-like Fundus
![Page 56: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/56.jpg)
‘Pseudo-RP’
56
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
DDx for an RP-like Fundus
![Page 57: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/57.jpg)
‘Pseudo-RP’
57
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
DDx for an RP-like Fundus
![Page 58: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/58.jpg)
‘Pseudo-RP’
58
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
How is Zellweger syndrome diagnosed?By the constellation of findings (along with elevated levels of VLCFA in the blood)
How is Zellweger managed? Supportively
DDx for an RP-like Fundus
![Page 59: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/59.jpg)
‘Pseudo-RP’
59
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
How is Zellweger syndrome diagnosed?By the constellation of findings (along with elevated levels of VLCFA in the blood)
How is Zellweger managed? Supportively
DDx for an RP-like Fundus
![Page 60: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/60.jpg)
‘Pseudo-RP’
60
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
How is Zellweger syndrome diagnosed?By the constellation of findings (along with elevated levels of VLCFA in the blood)
How is Zellweger managed? Supportively
DDx for an RP-like Fundus
![Page 61: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/61.jpg)
‘Pseudo-RP’
61
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
How is Zellweger syndrome diagnosed?By the constellation of findings (along with elevated levels of VLCFA in the blood)
How is Zellweger managed? Supportively
DDx for an RP-like Fundus
![Page 62: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/62.jpg)
‘Pseudo-RP’
62
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
DDx for an RP-like Fundus
![Page 63: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/63.jpg)
‘Pseudo-RP’
63
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
DDx for an RP-like Fundus
![Page 64: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/64.jpg)
‘Pseudo-RP’
64
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
DDx for an RP-like Fundus
![Page 65: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/65.jpg)
‘Pseudo-RP’
65
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
DDx for an RP-like Fundus
![Page 66: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/66.jpg)
‘Pseudo-RP’
66
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
Note: Both are inherited AR
DDx for an RP-like Fundus
![Page 67: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/67.jpg)
‘Pseudo-RP’
67
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
DDx for an RP-like Fundus
![Page 68: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/68.jpg)
‘Pseudo-RP’
68
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
‘age’
DDx for an RP-like Fundus
![Page 69: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/69.jpg)
‘Pseudo-RP’
69
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--------Seizures
What is the prognosis?It is uniformly fatal by late childhood
DDx for an RP-like Fundus
![Page 70: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/70.jpg)
‘Pseudo-RP’
70
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--------Seizures
What is the prognosis?It is uniformly fatal by late childhood
Note: NALD’s onset occurs a little later than does Zellweger’s
DDx for an RP-like Fundus
![Page 71: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/71.jpg)
‘Pseudo-RP’
71
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--?--?--?--?
What is the prognosis?It is uniformly fatal by late childhood
DDx for an RP-like Fundus
![Page 72: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/72.jpg)
‘Pseudo-RP’
72
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
DDx for an RP-like Fundus
![Page 73: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/73.jpg)
‘Pseudo-RP’
73
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
Note that NALD has the same S/S as Zellweger, except it’s missing the last one on the list
DDx for an RP-like Fundus
![Page 74: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/74.jpg)
‘Pseudo-RP’
74
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
DDx for an RP-like Fundus
![Page 75: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/75.jpg)
‘Pseudo-RP’
75
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
DDx for an RP-like Fundus
![Page 76: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/76.jpg)
‘Pseudo-RP’
76
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
DDx for an RP-like Fundus
![Page 77: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/77.jpg)
‘Pseudo-RP’
77
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
And albeit dreadful, the prognosis for NALD is better than that for Zellweger
DDx for an RP-like Fundus
![Page 78: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/78.jpg)
‘Pseudo-RP’
78
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
So NALD and Zellweger are quite similar, except that NALD is a somewhat milder condition:--Later onset--One fewer S/S (= no abnormal facies)--Pts live a little longer
DDx for an RP-like Fundus
![Page 79: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/79.jpg)
‘Pseudo-RP’
79
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
Why does neonatal ADRENOleukodystrophy have adreno- in the name?In NALD, the VLCFAs impair the function of adrenal glands by compromising the integrity of adrenal-cell membranes
How is NALD diagnosed?Via its clinical presentation, coupled with MRI of the brain revealing gross white-matter abnormalities, and the elevated serum VLCFAs
How is NALD managed? Supportively (just like Zellweger pts)
DDx for an RP-like Fundus
![Page 80: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/80.jpg)
‘Pseudo-RP’
80
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
Why does neonatal ADRENOleukodystrophy have adreno- in the name?In NALD, the VLCFAs impair the function of adrenal glands by compromising the integrity of adrenal-cell membranes
How is NALD diagnosed?Via its clinical presentation, coupled with MRI of the brain revealing gross white-matter abnormalities, and the elevated serum VLCFAs
How is NALD managed? Supportively (just like Zellweger pts)
DDx for an RP-like Fundus
![Page 81: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/81.jpg)
‘Pseudo-RP’
81
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
Why does neonatal ADRENOleukodystrophy have adreno- in the name?In NALD, the VLCFAs impair the function of adrenal glands by compromising the integrity of adrenal-cell membranes
How is NALD diagnosed?Via its clinical presentation, coupled with MRI of the brain revealing gross white-matter abnormalities, and the elevated serum VLCFAs
How is NALD managed? Supportively (just like Zellweger pts)
DDx for an RP-like Fundus
![Page 82: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/82.jpg)
‘Pseudo-RP’
82
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
Why does neonatal ADRENOleukodystrophy have adreno- in the name?In NALD, the VLCFAs impair the function of adrenal glands by compromising the integrity of adrenal-cell membranes
How is NALD diagnosed?Via its clinical presentation, coupled with MRI of the brain revealing gross white-matter abnormalities, and the elevated serum VLCFAs
How is NALD managed? Supportively (just like Zellweger pts)
DDx for an RP-like Fundus
![Page 83: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/83.jpg)
‘Pseudo-RP’
83
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
Why does neonatal ADRENOleukodystrophy have adreno- in the name?In NALD, the VLCFAs impair the function of adrenal glands by compromising the integrity of adrenal-cell membranes
How is NALD diagnosed?Via its clinical presentation, coupled with MRI of the brain revealing gross white-matter abnormalities, and the elevated serum VLCFAs
How is NALD managed? Supportively (just like Zellweger pts)
DDx for an RP-like Fundus
![Page 84: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/84.jpg)
‘Pseudo-RP’
84
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
Why does neonatal ADRENOleukodystrophy have adreno- in the name?In NALD, the VLCFAs impair the function of adrenal glands by compromising the integrity of adrenal-cell membranes
How is NALD diagnosed?Via its clinical presentation, coupled with MRI of the brain revealing gross white-matter abnormalities, and the elevated serum VLCFAs
How is NALD managed? Supportively (just like Zellweger)
DDx for an RP-like Fundus
![Page 85: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/85.jpg)
‘Pseudo-RP’
85
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz = adult-onset Refsum?
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
Before we get into it: Is infantile Refsum dz the same as adult-onset Refsum dz?No
DDx for an RP-like Fundus
![Page 86: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/86.jpg)
‘Pseudo-RP’
86
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz = adult-onset Refsum? No!
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
Before we get into it: Is infantile Refsum dz the same as adult-onset Refsum dz?No
DDx for an RP-like Fundus
![Page 87: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/87.jpg)
‘Pseudo-RP’
87
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
DDx for an RP-like Fundus
![Page 88: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/88.jpg)
‘Pseudo-RP’
88
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
DDx for an RP-like Fundus
![Page 89: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/89.jpg)
‘Pseudo-RP’
89
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
DDx for an RP-like Fundus
![Page 90: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/90.jpg)
‘Pseudo-RP’
90
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
DDx for an RP-like Fundus
![Page 91: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/91.jpg)
‘Pseudo-RP’
91
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
Like Zellweger’s and NALD, infantile Refsum’s is inherited AR
DDx for an RP-like Fundus
![Page 92: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/92.jpg)
‘Pseudo-RP’
92
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
DDx for an RP-like Fundus
![Page 93: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/93.jpg)
‘Pseudo-RP’
93
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
‘age’
DDx for an RP-like Fundus
![Page 94: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/94.jpg)
‘Pseudo-RP’
94
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
DDx for an RP-like Fundus
![Page 95: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/95.jpg)
‘Pseudo-RP’
95
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
Just as NALD’s onset is a little later than Zellweger’s, infantile Refum’s is a little later than that of NALD
DDx for an RP-like Fundus
![Page 96: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/96.jpg)
‘Pseudo-RP’
96
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--?--?--?
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
DDx for an RP-like Fundus
![Page 97: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/97.jpg)
‘Pseudo-RP’
97
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
DDx for an RP-like Fundus
![Page 98: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/98.jpg)
‘Pseudo-RP’
98
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
And just as NALD has the same S/S as Zellweger save one, so too with infantile Refsum--it has the same as NALD, except, again, for the last one on the list (note that this means it has the same S/S as Zellweger, save two)
DDx for an RP-like Fundus
![Page 99: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/99.jpg)
‘Pseudo-RP’
99
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
Note that all three peroxisomal disorders involve deafness. Thus, if faced with a deaf-blind pt in clinic or on the OKAP/Boards, don’t automatically assume it’s Usher syndrome!
DDx for an RP-like Fundus
![Page 100: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/100.jpg)
‘Pseudo-RP’
100
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
DDx for an RP-like Fundus
![Page 101: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/101.jpg)
‘Pseudo-RP’
101
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
DDx for an RP-like Fundus
![Page 102: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/102.jpg)
‘Pseudo-RP’
102
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
DDx for an RP-like Fundus
![Page 103: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/103.jpg)
‘Pseudo-RP’
103
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
And just as the prognosis for NALD was better than for Zellweger, so too in turn is the prognosis for infantile Refsum better than that for NALD
DDx for an RP-like Fundus
![Page 104: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/104.jpg)
‘Pseudo-RP’
104
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
So infantile Refsum and NALD are quite similar, except that infantile Refsum is a somewhat milder condition:--Later onset--One fewer S/S (= no seizures)--Pts live longer
DDx for an RP-like Fundus
![Page 105: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/105.jpg)
‘Pseudo-RP’
105
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
How is infantile Refsum diagnosed?Via elevated serum phytanic acid levels (and VLCFAs)
DDx for an RP-like Fundus
![Page 106: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/106.jpg)
‘Pseudo-RP’
106
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
How is infantile Refsum diagnosed?Via elevated serum phytanic acid levels (and VLCFAs)
DDx for an RP-like Fundus
![Page 107: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/107.jpg)
‘Pseudo-RP’
107
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
How is infantile Refsum diagnosed?Via elevated serum phytanic acid levels (and VLCFAs)
Hol up—you can treat this one??!! How is infantile Refsum treated?Dietary restriction of phytanic acid and phytol (a phytanic acid precursor); plasmapheresis may be employed acutely
DDx for an RP-like Fundus
![Page 108: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/108.jpg)
‘Pseudo-RP’
108
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz aka…Infantile phytanic acid storage dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the noneponymous name for Zellweger syndrome?Cerebrohepatorenal syndrome
What is its inheritance pattern?AR
How do Zellweger syndrome pts present?In the neonatal period with:--RP-like fundus--Deafness--Hypotonia--Seizures--Abnormal facies (high forehead; hypertelorism)
What is the prognosis?It is uniformly fatal by age 1 year
Is NALD the same condition as adrenoleukodystrophy?No, that is an X-linked condition that presents later in childhood
What is its inheritance pattern?AR
How do NALD pts present?In the late infancy period with:--RP-like fundus--Deafness--Hypotonia--Seizures
What is the prognosis?It is uniformly fatal by late childhood
By what noneponymous name is infantile Refsum disease known?Infantile phytanic acid storage disease
What is its inheritance pattern?AR
How do infantile Refsum dz pts present?In the early childhood period with:--RP-like fundus--Deafness--Hypotonia
What is the prognosis?It is uniformly fatal by early adulthood (if treatment is unsuccessful)
Hol up—you can treat this one??!! How is infantile Refsum treated?Dietary restriction of phytanic acid and phytol (a phytanic acid precursor); plasmapheresis may be employed acutely
How is infantile Refsum diagnosed?Via elevated serum phytanic acid levels (and VLCFAs)
DDx for an RP-like Fundus
![Page 109: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/109.jpg)
‘Pseudo-RP’
109
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
Infantile Refsum
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
Signs/symptoms
Peroxismal disorders tl;dr(Review slides--no questions)
DDx for an RP-like Fundus
![Page 110: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/110.jpg)
‘Pseudo-RP’
110
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
Infantile RefsumNALD Signs/symptoms
Peroxismal disorders tl;dr(Review slides--no questions)
DDx for an RP-like Fundus
![Page 111: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/111.jpg)
‘Pseudo-RP’
111
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
Infantile RefsumNALD
Zellweger syndrome Signs/symptoms
Peroxismal disorders tl;dr(Review slides--no questions)
DDx for an RP-like Fundus
![Page 112: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/112.jpg)
‘Pseudo-RP’
112
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
Infantile RefsumNALD
Zellweger syndrome Presents earliest
Peroxismal disorders tl;dr(Review slides--no questions)
DDx for an RP-like Fundus
![Page 113: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/113.jpg)
‘Pseudo-RP’
113
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
Infantile RefsumNALD
Zellweger syndromePresents later
Peroxismal disorders tl;dr(Review slides--no questions)
DDx for an RP-like Fundus
![Page 114: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/114.jpg)
‘Pseudo-RP’
114
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
Infantile RefsumNALD
Zellweger syndrome
Presents latest
Peroxismal disorders tl;dr(Review slides--no questions)
DDx for an RP-like Fundus
![Page 115: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/115.jpg)
‘Pseudo-RP’
115
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
Infantile RefsumNALD
Zellweger syndrome
Best prognosis
Peroxismal disorders tl;dr(Review slides--no questions)
DDx for an RP-like Fundus
![Page 116: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/116.jpg)
‘Pseudo-RP’
116
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
Infantile RefsumNALD
Zellweger syndromeWorse prognosis
Peroxismal disorders tl;dr(Review slides--no questions)
DDx for an RP-like Fundus
![Page 117: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/117.jpg)
‘Pseudo-RP’
117
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
Infantile RefsumNALD
Zellweger syndrome Worst prognosis
Peroxismal disorders tl;dr(Review slides--no questions)
DDx for an RP-like Fundus
![Page 118: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/118.jpg)
‘Pseudo-RP’
118
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
NALDZellweger syndrome
Infantile RefsumAll three are inherited AR
Peroxismal disorders tl;dr(Review slides--no questions)
DDx for an RP-like Fundus
![Page 119: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/119.jpg)
‘Pseudo-RP’
119
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
NALDZellweger syndrome
Infantile RefsumAll three are inherited AR
Peroxismal disorders tl;dr(Review slides--no questions)
DDx for an RP-like Fundus
![Page 120: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/120.jpg)
‘Pseudo-RP’
120
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
RP-like fundus
Deafness
Hypotonia
Seizures
Abnormal facies
NALDZellweger syndrome
Infantile Refsum
Peroxismal disorders tl;dr
Only infantile Refsum is treatable
(Review slides--no questions)
DDx for an RP-like Fundus
![Page 121: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/121.jpg)
‘Pseudo-RP’
121
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--LCA--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
DDx for an RP-like Fundus
![Page 122: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/122.jpg)
‘Pseudo-RP’
122
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--LCA--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
two substances
DDx for an RP-like Fundus
![Page 123: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/123.jpg)
‘Pseudo-RP’
123
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--LCA--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
DDx for an RP-like Fundus
![Page 124: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/124.jpg)
‘Pseudo-RP’
124
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--LCA--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
DDx for an RP-like Fundus
![Page 125: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/125.jpg)
‘Pseudo-RP’
125
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--LCA--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
DDx for an RP-like Fundus
![Page 126: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/126.jpg)
‘Pseudo-RP’
126
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--LCA--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
DDx for an RP-like Fundus
![Page 127: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/127.jpg)
‘Pseudo-RP’
127
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:----------Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
DDx for an RP-like Fundus
![Page 128: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/128.jpg)
‘Pseudo-RP’
128
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--RP-like fundus--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
DDx for an RP-like Fundus
![Page 129: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/129.jpg)
‘Pseudo-RP’
129
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--RP-like fundus--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
DDx for an RP-like Fundus
![Page 130: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/130.jpg)
‘Pseudo-RP’
130
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--RP-like fundus--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
DDx for an RP-like Fundus
![Page 131: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/131.jpg)
‘Pseudo-RP’
131
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--RP-like fundus--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
How is Batten dz diagnosed?It is a mélange of imaging, genetic and other tests. If asked, punt to a geneticist.
How is Batten dz managed? Supportively
DDx for an RP-like Fundus
![Page 132: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/132.jpg)
‘Pseudo-RP’
132
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--RP-like fundus--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
How is Batten dz diagnosed?It is a mélange of imaging, genetic and other tests. If asked, punt to a geneticist.
How is Batten dz managed? Supportively
DDx for an RP-like Fundus
![Page 133: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/133.jpg)
‘Pseudo-RP’
133
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--RP-like fundus--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
How is Batten dz diagnosed?It is a mélange of imaging, genetic and other tests. If asked, punt to a geneticist.
How is Batten dz managed? Supportively
DDx for an RP-like Fundus
![Page 134: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/134.jpg)
‘Pseudo-RP’
134
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
What are the neuronal ceroid lipofuscinoses(NCLs; collectively referred to as Batten dz)?Neurodegenerative conditions stemming from the buildup of ceroid & lipofuscin in cells
What is the inheritance pattern?AR
How do Batten dz pts present?In infancy to early childhood with:--RP-like fundus--Seizures--Myoclonus--Microcephaly (in the infantile forms)--Relentlessly progressive neurologic and cognitive decline
What is the prognosis?Depending on the form, it is fatal bylate childhood to early adulthood
How is Batten dz diagnosed?It is a mélange of imaging, genetic and other tests. If asked, punt to a geneticist.
How is Batten dz managed? Supportively
DDx for an RP-like Fundus
![Page 135: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/135.jpg)
‘Pseudo-RP’
135
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’What is a ciliopathy?
An inherited condition marked by abnormal structure and/or function of cilia
Cilia are ubiquitous. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
DDx for an RP-like Fundus
![Page 136: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/136.jpg)
‘Pseudo-RP’
136
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’What is a ciliopathy?
An inherited condition marked by abnormal structure and/or function of cilia
Cilia are ubiquitous. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
DDx for an RP-like Fundus
![Page 137: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/137.jpg)
‘Pseudo-RP’
137
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’What is a ciliopathy?
An inherited condition marked by abnormal structure and/or function of cilia
Cilia are ubiquitous. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
DDx for an RP-like Fundus
![Page 138: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/138.jpg)
‘Pseudo-RP’
138
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’What is a ciliopathy?
An inherited condition marked by abnormal structure and/or function of cilia
Cilia are ubiquitous. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
DDx for an RP-like Fundus
![Page 139: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/139.jpg)
‘Pseudo-RP’
139
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’What is a ciliopathy?
An inherited condition marked by abnormal structure and/or function of cilia
Cilia are organelles. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
The eyes??!! Which part of the eye contains cilia wiggling about?None. Remember, cilia come in two basic flavors: Motile, and nonmotile. It is the nonmotile type which is ubiquitous in the eye.
DDx for an RP-like Fundus
![Page 140: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/140.jpg)
‘Pseudo-RP’
140
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’What is a ciliopathy?
An inherited condition marked by abnormal structure and/or function of cilia
Cilia are organelles. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
The eyes??!! Which part of the eye contains cilia wiggling about?None. Remember, cilia come in two basic flavors: Motile, and nonmotile. It is the nonmotile type which is ubiquitous in the eye.
DDx for an RP-like Fundus
![Page 141: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/141.jpg)
‘Pseudo-RP’
141
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’What is a ciliopathy?
An inherited condition marked by abnormal structure and/or function of cilia
Cilia are organelles. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
The eyes??!! Which part of the eye contains cilia wiggling about?None. Remember, cilia come in two basic flavors: Motile, and nonmotile. It is the nonmotile type which is ubiquitous in the eye.
OK then, where in the eye are the nonmotile cilia, dysfunction of which leads to an RP-like fundus?Recall that, fundamentally, RP is a photoreceptor disorder. Given this, it should come as no surprise that nonmotile cilia comprise a portion of the photoreceptors themselves (specifically, they contribute to the connection between the inner and outer segments)
DDx for an RP-like Fundus
![Page 142: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/142.jpg)
‘Pseudo-RP’
142
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’What is a ciliopathy?
An inherited condition marked by abnormal structure and/or function of cilia
Cilia are organelles. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
The eyes??!! Which part of the eye contains cilia wiggling about?None. Remember, cilia come in two basic flavors: Motile, and nonmotile. It is the nonmotile type which is ubiquitous in the eye.
OK then, where in the eye are the nonmotile cilia, dysfunction of which leads to an RP-like fundus?Recall that, fundamentally, RP is a photoreceptor disorder. Given this, it should come as no surprise that nonmotile cilia comprise a portion of the photoreceptors themselves (specifically, they contribute to the connection between the inner and outer segments)
one word
DDx for an RP-like Fundus
![Page 143: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/143.jpg)
‘Pseudo-RP’
143
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’What is a ciliopathy?
An inherited condition marked by abnormal structure and/or function of cilia
Cilia are organelles. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
The eyes??!! Which part of the eye contains cilia wiggling about?None. Remember, cilia come in two basic flavors: Motile, and nonmotile. It is the nonmotile type which is ubiquitous in the eye.
OK then, where in the eye are the nonmotile cilia, dysfunction of which leads to an RP-like fundus?Recall that, fundamentally, RP is a photoreceptor disorder. Given this, it should come as no surprise that nonmotile cilia comprise a portion of the photoreceptors themselves (specifically, they contribute to the connection between the inner and outer segments)
DDx for an RP-like Fundus
![Page 144: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/144.jpg)
‘Pseudo-RP’
144
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’What is a ciliopathy?
An inherited condition marked by abnormal structure and/or function of cilia
Cilia are organelles. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
The eyes??!! Which part of the eye contains cilia wiggling about?None. Remember, cilia come in two basic flavors: Motile, and nonmotile. It is the nonmotile type which is ubiquitous in the eye.
OK then, where in the eye are the nonmotile cilia, dysfunction of which leads to an RP-like fundus?Recall that, fundamentally, RP is a photoreceptor disorder. Given this, it should come as no surprise that nonmotile cilia comprise a portion of the photoreceptors themselves (specifically, they contribute to the connection between the inner and outer segments).
DDx for an RP-like Fundus
![Page 145: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/145.jpg)
‘Pseudo-RP’
145
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--?--?--?--?
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
Which ciliopathies present with an RP-like fundus?
What is a ciliopathy?An inherited condition marked by abnormal structure and/or function of cilia
Cilia are ubiquitous. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
DDx for an RP-like Fundus
![Page 146: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/146.jpg)
‘Pseudo-RP’
146
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
Which ciliopathies present with an RP-like fundus?
What is a ciliopathy?An inherited condition marked by abnormal structure and/or function of cilia
Cilia are ubiquitous. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
DDx for an RP-like Fundus
![Page 147: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/147.jpg)
‘Pseudo-RP’
147
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
Note that all of the ciliopathies are marked by relentlessly progressive renal failure resulting in ESRD early in life!
What is a ciliopathy?An inherited condition marked by abnormal structure and/or function of cilia
Cilia are ubiquitous. That said, ciliopathies primarily affect three organs--what are they?The eyes, brain and kidneys
DDx for an RP-like Fundus
![Page 148: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/148.jpg)
‘Pseudo-RP’
148
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
Got a mnemonic for remembering the ciliopathies?JABS. Imagine a cilia as it jabs someone in the eye
DDx for an RP-like Fundus
![Page 149: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/149.jpg)
‘Pseudo-RP’
149
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
Got a mnemonic for remembering the ciliopathies?JABS. Imagine a cilia as it jabs someone in the eye
DDx for an RP-like Fundus
![Page 150: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/150.jpg)
‘Pseudo-RP’
150
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What findings define the Bardet-Biedl complex?----------
The mnemonic is…
DDx for an RP-like Fundus
![Page 151: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/151.jpg)
‘Pseudo-RP’
151
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What findings define the Bardet-Biedl complex?--H--O--M--E--R
(as in Simpson)
DDx for an RP-like Fundus
![Page 152: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/152.jpg)
‘Pseudo-RP’
152
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What findings define the Bardet-Biedl complex?--H--O--M--E--RP-like fundus
Not surprisingly, the ‘R’ stands for RP-like fundus.As for the rest…
DDx for an RP-like Fundus
![Page 153: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/153.jpg)
‘Pseudo-RP’
153
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What findings define the Bardet-Biedl complex?--Hypogonadism--Obesity--Mental retardation--Extra fingers (polydactyly)--RP-like fundus
Not surprisingly, the ‘R’ stands for RP-like fundus.As for the rest…
DDx for an RP-like Fundus
![Page 154: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/154.jpg)
‘Pseudo-RP’
154
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What findings define the Bardet-Biedl complex?--Hypogonadism--Obesity--Mental retardation--Extra fingers (polydactyly)--RP-like fundus
And yeah, I know, Homer only has four digits per hand--paucidactyly, not polydactyly. But the rest fits him pretty well.
DDx for an RP-like Fundus
![Page 155: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/155.jpg)
‘Pseudo-RP’
155
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What findings define the Bardet-Biedl complex?--Hypogonadism?--Obesity?--Mental retardation?--Extra fingers (polydactyly)?--RP-like fundus
Alström syndrome includes an RP-like fundus (duh), but shares only one other finding with the B-B complex—
which one?
DDx for an RP-like Fundus
![Page 156: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/156.jpg)
‘Pseudo-RP’
156
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What findings define the Bardet-Biedl complex?--Hypogonadism--Obesity--Mental retardation--Extra fingers (polydactyly)--RP-like fundus
Alström syndrome includes an RP-like fundus (duh), but shares only one other finding with the B-B complex—
which one?
DDx for an RP-like Fundus
![Page 157: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/157.jpg)
‘Pseudo-RP’
157
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What findings define the Bardet-Biedl complex?--Hypogonadism--Obesity--Mental retardation--Extra fingers (polydactyly)--RP-like fundus--?--?
Alström syndrome includes an RP-like fundus (duh), but shares only one other finding with the B-B complex—
which one?
It has two features not found in B-B: What are they?
Both occur in childhood to teens
DDx for an RP-like Fundus
![Page 158: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/158.jpg)
‘Pseudo-RP’
158
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What findings define the Bardet-Biedl complex?--Hypogonadism--Obesity--Mental retardation--Extra fingers (polydactyly)--RP-like fundus--Cardiomyopathy--Early-onset type 2 DM
Alström syndrome includes an RP-like fundus (duh), but shares only one other finding with the B-B complex—
which one?
It has two features not found in B-B: What are they?
Both occur in childhood to teens
DDx for an RP-like Fundus
![Page 159: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/159.jpg)
‘Pseudo-RP’
159
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
How are BBS and AS managed?Supportively
DDx for an RP-like Fundus
![Page 160: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/160.jpg)
‘Pseudo-RP’
160
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
How are BBS and AS managed?Supportively
DDx for an RP-like Fundus
![Page 161: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/161.jpg)
‘Pseudo-RP’
161
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What are the main nonocular structures affected in JS?The brainstem and cerebellum
What classic MRI finding is the hallmark of JS?‘Molar tooth sign’ (look it up)
How do JS pts present?In the late infancy period with:--LCA--Hypotonia--Abnormal breathing (hyperpnea or apnea)--Intellectual and motor deficits--Seizures--Abnormal facies
What is the prognosis?It is highly variable
DDx for an RP-like Fundus
![Page 162: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/162.jpg)
‘Pseudo-RP’
162
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What are the main nonocular structures affected in JS?The brainstem and cerebellum
What classic MRI finding is the hallmark of JS?‘Molar tooth sign’ (look it up)
How do JS pts present?In the late infancy period with:--LCA--Hypotonia--Abnormal breathing (hyperpnea or apnea)--Intellectual and motor deficits--Seizures--Abnormal facies
What is the prognosis?It is highly variable
DDx for an RP-like Fundus
![Page 163: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/163.jpg)
‘Pseudo-RP’
163
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What are the main nonocular structures affected in JS?The brainstem and cerebellum
What classic MRI finding is the hallmark of JS?‘Molar tooth sign’ (look it up)
How do JS pts present?In the late infancy period with:--LCA--Hypotonia--Abnormal breathing (hyperpnea or apnea)--Intellectual and motor deficits--Seizures--Abnormal facies
What is the prognosis?It is highly variable
DDx for an RP-like Fundus
![Page 164: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/164.jpg)
‘Pseudo-RP’
164
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What are the main nonocular structures affected in JS?The brainstem and cerebellum
What classic MRI finding is the hallmark of JS?‘Molar tooth sign’
How do JS pts present?In the late infancy period with:--LCA--Hypotonia--Abnormal breathing (hyperpnea or apnea)--Intellectual and motor deficits--Seizures--Abnormal facies
What is the prognosis?It is highly variable
DDx for an RP-like Fundus
![Page 165: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/165.jpg)
165
Joubert syndrome: Molar-tooth sign (look at the brainstem)
DDx for an RP-like Fundus
![Page 166: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/166.jpg)
‘Pseudo-RP’
166
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What are the main nonocular structures affected in JS?The brainstem and cerebellum
What classic MRI finding is the hallmark of JS?‘Molar tooth sign’
How do JS pts present?In the late infancy period with:--LCA--Hypotonia--Abnormal breathing (hyperpnea or apnea)--Intellectual and motor deficits--Seizures--Abnormal facies
What is the prognosis?It is highly variable
DDx for an RP-like Fundus
![Page 167: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/167.jpg)
‘Pseudo-RP’
167
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What are the main nonocular structures affected in JS?The brainstem and cerebellum
What classic MRI finding is the hallmark of JS?‘Molar tooth sign’
How do JS pts present?In the late infancy period with:--LCA--Hypotonia--Abnormal breathing (hyperpnea or apnea)--Intellectual and motor deficits--Seizures--Abnormal facies
What is the prognosis?It is highly variable
DDx for an RP-like Fundus
![Page 168: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/168.jpg)
‘Pseudo-RP’
168
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What are the main nonocular structures affected in JS?The brainstem and cerebellum
What classic MRI finding is the hallmark of JS?‘Molar tooth sign’
How do JS pts present?In the late infancy period with:--RP-like fundus--Hypotonia--Disordered breathing (hyperpnea or apnea)--Intellectual and motor deficits--Seizures--Abnormal facies
What is the prognosis?It is highly variable
DDx for an RP-like Fundus
![Page 169: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/169.jpg)
169
Joubert syndrome: Facies. Note the large head, broad forehead
DDx for an RP-like Fundus
![Page 170: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/170.jpg)
‘Pseudo-RP’
170
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What are the main nonocular structures affected in JS?The brainstem and cerebellum
What classic MRI finding is the hallmark of JS?‘Molar tooth sign’
How do JS pts present?In the late infancy period with:--RP-like fundus--Hypotonia--Disordered breathing (hyperpnea or apnea)--Intellectual and motor deficits--Seizures--Abnormal facies
What is the prognosis?It is highly variable
DDx for an RP-like Fundus
![Page 171: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/171.jpg)
‘Pseudo-RP’
171
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What are the main nonocular structures affected in JS?The brainstem and cerebellum
What classic MRI finding is the hallmark of JS?‘Molar tooth sign’
How do JS pts present?In the late infancy period with:--RP-like fundus--Hypotonia--Disordered breathing (hyperpnea or apnea)--Intellectual and motor deficits--Seizures--Abnormal facies
What is the prognosis?It is highly variable
DDx for an RP-like Fundus
![Page 172: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/172.jpg)
‘Pseudo-RP’
172
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What are the main nonocular structures affected in JS?The brainstem and cerebellum
What classic MRI finding is the hallmark of JS?‘Molar tooth sign’
How do JS pts present?In the late infancy period with:--RP-like fundus--Hypotonia--Disordered breathing (hyperpnea or apnea)--Intellectual and motor deficits--Seizures--Abnormal facies
What is the prognosis?It is highly variable
How is JS managed? Supportively
DDx for an RP-like Fundus
![Page 173: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/173.jpg)
‘Pseudo-RP’
173
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What are the main nonocular structures affected in JS?The brainstem and cerebellum
What classic MRI finding is the hallmark of JS?‘Molar tooth sign’
How do JS pts present?In the late infancy period with:--RP-like fundus--Hypotonia--Disordered breathing (hyperpnea or apnea)--Intellectual and motor deficits--Seizures--Abnormal facies
What is the prognosis?It is highly variable
How is JS managed? Supportively
DDx for an RP-like Fundus
![Page 174: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/174.jpg)
‘Pseudo-RP’
174
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
Senior-Løken syndrome is not listed with the other ciliopathies in the Retina book; rather, it is discussed in the Peds book, and only briefly. All you need to know about it is that, like all the ciliopathies mentioned, it involves retinal degeneration (with an LCA or RP-like fundus appearance) and relentlessly progressive renal failure.
DDx for an RP-like Fundus
![Page 175: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/175.jpg)
‘Pseudo-RP’
175
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromestwo words
DDx for an RP-like Fundus
![Page 176: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/176.jpg)
‘Pseudo-RP’
176
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
DDx for an RP-like Fundus
![Page 177: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/177.jpg)
‘Pseudo-RP’
177
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
DDx for an RP-like Fundus
![Page 178: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/178.jpg)
‘Pseudo-RP’
178
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
DDx for an RP-like Fundus
![Page 179: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/179.jpg)
‘Pseudo-RP’
179
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
DDx for an RP-like Fundus
![Page 180: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/180.jpg)
‘Pseudo-RP’
180
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
DDx for an RP-like Fundus
![Page 181: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/181.jpg)
‘Pseudo-RP’
181
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome--Alport syndrome?--Lowe syndrome?
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
Are Alport and Lowe syndromes ciliopathies?
DDx for an RP-like Fundus
![Page 182: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/182.jpg)
‘Pseudo-RP’
182
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome--Alport syndrome? No!--Lowe syndrome? No!
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
Are Alport and Lowe syndromes ciliopathies? No
DDx for an RP-like Fundus
![Page 183: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/183.jpg)
‘Pseudo-RP’
183
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
DDx for an RP-like Fundus
![Page 184: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/184.jpg)
‘Pseudo-RP’
184
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
DDx for an RP-like Fundus
![Page 185: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/185.jpg)
‘Pseudo-RP’
185
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
(Note also that Alport syndrome is associated with hearing loss, so it is in the DDx for a pt with suspected Usher syndrome.)
DDx for an RP-like Fundus
![Page 186: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/186.jpg)
‘Pseudo-RP’
186
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
(Note also that Alport syndrome is associated with hearing loss, so it is in the DDx for a pt with suspected Usher syndrome.)
DDx for an RP-like Fundus
![Page 187: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/187.jpg)
‘Pseudo-RP’
187
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
Abnormalities of what intraocular structure are associated with Alport and Lowe syndromes?The lens
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
DDx for an RP-like Fundus
![Page 188: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/188.jpg)
‘Pseudo-RP’
188
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
Abnormalities of what intraocular structure are associated with Alport and Lowe syndromes?The lens
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
DDx for an RP-like Fundus
![Page 189: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/189.jpg)
‘Pseudo-RP’
189
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
Abnormalities of what intraocular structure are associated with Alport and Lowe syndromes?The lens
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
What lens pathologies occur with Alport and Lowe syndromes? ------
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
DDx for an RP-like Fundus
![Page 190: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/190.jpg)
‘Pseudo-RP’
190
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
Abnormalities of what intraocular structure are associated with Alport and Lowe syndromes?The lens
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
What lens pathologies occur with Alport and Lowe syndromes? --Lenticonus--Cataracts--Microspherophakia
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
DDx for an RP-like Fundus
![Page 191: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/191.jpg)
‘Pseudo-RP’
191
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
Abnormalities of what intraocular structure are associated with Alport and Lowe syndromes?The lens
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
What lens pathologies occur with Alport and Lowe syndromes? --Lenticonus?--Cataracts?--Microspherophakia?
Which is the classic association with Alport and Lowe syndromes? Which should come first to mind?Lenticonus
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
DDx for an RP-like Fundus
![Page 192: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/192.jpg)
‘Pseudo-RP’
192
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
Abnormalities of what intraocular structure are associated with Alport and Lowe syndromes?The lens
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
What lens pathologies occur with Alport and Lowe syndromes? --Lenticonus!--Cataracts--Microspherophakia
Which is the classic association with Alport and Lowe syndromes? Which should come first to mind?Lenticonus
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
DDx for an RP-like Fundus
![Page 193: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/193.jpg)
193
Anterior lenticonus Posterior lenticonus
![Page 194: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/194.jpg)
‘Pseudo-RP’
194
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
Abnormalities of what intraocular structure are associated with Alport and Lowe syndromes?The lens
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
What lens pathologies occur with Alport and Lowe syndromes? --Lenticonus?--Cataracts?--Microspherophakia?
Are these associated with the ciliopathies?
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
DDx for an RP-like Fundus
![Page 195: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/195.jpg)
‘Pseudo-RP’
195
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
For completeness’ sake: In three words (including syndromes), what sort of condition are these ciliopathies?They are familial oculorenal syndromes
Abnormalities of what intraocular structure are associated with Alport and Lowe syndromes?The lens
How many familial oculorenal syndromes are there?Including the four ciliopathies--six
What are the other two?Alport syndrome and Lowe syndrome
What lens pathologies occur with Alport and Lowe syndromes? --Lenticonus--Cataracts--Microspherophakia
Are these associated with the ciliopathies? No
Are Alport and Lowe syndrome in the DDx for an RP-like fundus?Lowe syndrome does not manifest retinal changes, so it is not. Alport syndrome is associated with what the Peds book describes as a “fleck retinopathy” and the Retina book as a “pigmentary retinopathy;” for this reason the Retina book considers it to be in the DDx.
DDx for an RP-like Fundus
![Page 196: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/196.jpg)
196
Familial Oculorenal Syndromes
One sort The other sort
tl;drQ
![Page 197: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/197.jpg)
197
Familial Oculorenal Syndromes
Ciliopathies Not Ciliopathies
tl;drA
![Page 198: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/198.jpg)
198
Familial Oculorenal Syndromes
Ciliopathies Not Ciliopathies?-?-?-?-
-?-?
tl;drQ
![Page 199: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/199.jpg)
199
Familial Oculorenal Syndromes
Ciliopathies Not CiliopathiesJoubert syndrome-Alström syndrome-
Bardet-Biedl syndrome-Senior-Løken syndrome-
-Alport syndrome-Lowe syndrome
tl;drA
![Page 200: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/200.jpg)
200
Familial Oculorenal Syndromes
Ciliopathies Not CiliopathiesJoubert syndrome-Alström syndrome-
Bardet-Biedl syndrome-Senior-Løken syndrome-
-Alport syndrome-Lowe syndrome
Key FeaturesRenal failurewithout hematuria
Renal failurewith hematuria
tl;dr
w/ vs w/o
Q
w/ vs w/o
![Page 201: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/201.jpg)
201
Familial Oculorenal Syndromes
Ciliopathies Not CiliopathiesJoubert syndrome-Alström syndrome-
Bardet-Biedl syndrome-Senior-Løken syndrome-
-Alport syndrome-Lowe syndrome
Renal failurewithout hematuria
Renal failurewith hematuria
tl;drA
Key Features
![Page 202: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/202.jpg)
202
Familial Oculorenal Syndromes
Ciliopathies Not CiliopathiesJoubert syndrome-Alström syndrome-
Bardet-Biedl syndrome-Senior-Løken syndrome-
-Alport syndrome-Lowe syndrome
Renal failurewithout hematuria
Renal failurewith hematuria
Classic eye finding:Pigmentary retinopathy
Classic eye finding:Lenticonus
tl;drQ
Key Features
![Page 203: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/203.jpg)
203
Familial Oculorenal Syndromes
Ciliopathies Not CiliopathiesJoubert syndrome-Alström syndrome-
Bardet-Biedl syndrome-Senior-Løken syndrome-
-Alport syndrome-Lowe syndrome
Renal failurewithout hematuria
Renal failurewith hematuria
Classic eye finding:Pigmentary retinopathy
Classic eye finding:Lenticonus
tl;drA
Key Features
![Page 204: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/204.jpg)
204
Familial Oculorenal Syndromes
Ciliopathies Not CiliopathiesJoubert syndrome-Alström syndrome-
Bardet-Biedl syndrome-Senior-Løken syndrome-
-Alport syndrome-Lowe syndrome
Renal failurewithout hematuria
Renal failurewith hematuria
Classic eye finding:Pigmentary retinopathy
Classic eye finding:Lenticonus
Inheritance: Inheritance:
tl;drQ
Key Features
![Page 205: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/205.jpg)
205
Familial Oculorenal Syndromes
Ciliopathies Not CiliopathiesJoubert syndrome-Alström syndrome-
Bardet-Biedl syndrome-Senior-Løken syndrome-
-Alport syndrome-Lowe syndrome
Renal failurewithout hematuria
Renal failurewith hematuria
Classic eye finding:Pigmentary retinopathy
Classic eye finding:Lenticonus
Inheritance:AR
Inheritance:X-linked
tl;drA
Key Features
![Page 206: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/206.jpg)
206
Familial Oculorenal Syndromes
Ciliopathies Not CiliopathiesJoubert syndrome-Alström syndrome-
Bardet-Biedl syndrome-Senior-Løken syndrome-
-Alport syndrome-Lowe syndrome
Renal failurewithout hematuria
Renal failurewith hematuria
Classic eye finding:Pigmentary retinopathy
Classic eye finding:Lenticonus
Inheritance:AR
Inheritance:X-linked
tl;dr
Key FeaturesFor more info on Alport and Lowe syndromes, see slide-set L4
![Page 207: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/207.jpg)
‘Pseudo-RP’
207
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
Worth stating explicitly that, in addition to being in the DDx for an RP-like fundus, these conditions are in the DDx for LCA. Once you get that connection locked down, learning this portion of the slide-set will constitute a twofer.
DDx for an RP-like Fundus
![Page 208: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/208.jpg)
‘Pseudo-RP’
208
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fact cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
DDx for an RP-like Fundus
![Page 209: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/209.jpg)
‘Pseudo-RP’
209
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fact cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
DDx for an RP-like Fundus
![Page 210: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/210.jpg)
‘Pseudo-RP’
210
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fact cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
DDx for an RP-like Fundus
![Page 211: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/211.jpg)
‘Pseudo-RP’
211
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fact cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
DDx for an RP-like Fundus
![Page 212: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/212.jpg)
‘Pseudo-RP’
212
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fact cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
DDx for an RP-like Fundus
![Page 213: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/213.jpg)
‘Pseudo-RP’
213
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fat cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
DDx for an RP-like Fundus
![Page 214: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/214.jpg)
‘Pseudo-RP’
214
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fat cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
DDx for an RP-like Fundus
![Page 215: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/215.jpg)
‘Pseudo-RP’
215
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fat cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
DDx for an RP-like Fundus
![Page 216: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/216.jpg)
‘Pseudo-RP’
216
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fat cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
In addition to low vitamin A levels, there is a classic finding on peripheral blood smear--what is it?Acanthocytosis of the RBCs
What does acanthocytosis mean?It means the RBCs have a ‘thorny’ appearance
DDx for an RP-like Fundus
![Page 217: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/217.jpg)
‘Pseudo-RP’
217
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fat cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
In addition to low vitamin A levels, there is a classic finding on peripheral blood smear--what is it?Acanthocytosis of the RBCs
What does acanthocytosis mean?It means the RBCs have a ‘thorny’ appearance
DDx for an RP-like Fundus
![Page 218: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/218.jpg)
‘Pseudo-RP’
218
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fat cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
In addition to low vitamin A levels, there is a classic finding on peripheral blood smear--what is it?Acanthocytosis of the RBCs
What does acanthocytosis mean?It means the RBCs have a ‘thorny’ appearance
DDx for an RP-like Fundus
![Page 219: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/219.jpg)
‘Pseudo-RP’
219
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fat cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
In addition to low vitamin A levels, there is a classic finding on peripheral blood smear--what is it?Acanthocytosis of the RBCs
What does acanthocytosis mean?It means the RBCs have a ‘thorny’ appearance
DDx for an RP-like Fundus
![Page 220: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/220.jpg)
220
Acanthocytosis
DDx for an RP-like Fundus
![Page 221: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/221.jpg)
‘Pseudo-RP’
221
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fat cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
DDx for an RP-like Fundus
![Page 222: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/222.jpg)
‘Pseudo-RP’
222
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fat cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
DDx for an RP-like Fundus
![Page 223: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/223.jpg)
‘Pseudo-RP’
223
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fat cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
What is the most common cause of hypovitaminosis A? (It’s not abetalipoproteinemia)Malabsorption secondary to GI surgery (eg, gastric bypass; small-bowel resection)
DDx for an RP-like Fundus
![Page 224: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/224.jpg)
‘Pseudo-RP’
224
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
What is the underlying problem in abetalipoproteinemia?One of the lipoproteins (ApoB) is not synthesized by the body
How is abetalipoproteinemia inherited?AR
How does the absence of ApoB lead to secondary RP?Without ApoB, fat cannot be properly absorbed. Without proper fat absorption, adequate vitamin A (a fat-soluble vitamin) levels cannot be maintained. And absent adequate vitamin A levels, the retina will cease functioning (as will other aspects of the CNS).
How is it diagnosed?Checking vitamin A levels is a good start
How is it treated?With supplementary vitamins A & E
What is the most common cause of hypovitaminosis A? (It’s not abetalipoproteinemia)Malabsorption secondary to GI surgery (eg, gastric bypass; small-bowel resection)
DDx for an RP-like Fundus
![Page 225: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/225.jpg)
‘Pseudo-RP’
225
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
In abetalipoproteinemia, -lipoprotein is absent (that’s what the prefix -a- indicates). Is hypobetalipoproteinemia a thing?
DDx for an RP-like Fundus
![Page 226: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/226.jpg)
‘Pseudo-RP’
226
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
In abetalipoproteinemia, -lipoprotein is absent (that’s what the prefix -a- indicates). Is hypobetalipoproteinemia a thing?Indeed it is, via a condition called ‘familial hypobetalipoproteinemia,’ and it can affect the retina (it’s mentioned in the BCSC books, but not addressed in detail)
DDx for an RP-like Fundus
![Page 227: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/227.jpg)
‘Pseudo-RP’
227
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndromealpha
Is a-alpha-lipoproteinemia a thing?
DDx for an RP-like Fundus
![Page 228: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/228.jpg)
‘Pseudo-RP’
228
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndromealpha
Is a-alpha-lipoproteinemia a thing?Indeed it is, but it’s not called that, for obvious reasons
DDx for an RP-like Fundus
![Page 229: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/229.jpg)
‘Pseudo-RP’
229
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndromealpha
Is a-alpha-lipoproteinemia a thing?Indeed it is, but it’s not called that, for obvious reasons
Does the absence of -lipoprotein affect the retina?
DDx for an RP-like Fundus
![Page 230: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/230.jpg)
‘Pseudo-RP’
230
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndromealpha
Is a-alpha-lipoproteinemia a thing?Indeed it is, but it’s not called that, for obvious reasons
Does the absence of -lipoprotein affect the retina?No, but it does affect the cornea
DDx for an RP-like Fundus
![Page 231: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/231.jpg)
‘Pseudo-RP’
231
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndromealpha
Is a-alpha-lipoproteinemia a thing?Indeed it is, but it’s not called that, for obvious reasons
Does the absence of -lipoprotein affect the retina?No, but it does affect the cornea
DDx for an RP-like Fundus
![Page 232: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/232.jpg)
‘Pseudo-RP’
232
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndromealpha
Is a-alpha-lipoproteinemia a thing?Indeed it is, but it’s not called that, for obvious reasons
Does the absence of -lipoprotein affect the retina?No, but it does affect the cornea
Low levels of -lipoprotein are implicated in three corneal conditions. What are they?------
DDx for an RP-like Fundus
![Page 233: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/233.jpg)
‘Pseudo-RP’
233
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndromealpha
Is a-alpha-lipoproteinemia a thing?Indeed it is, but it’s not called that, for obvious reasons
Does the absence of -lipoprotein affect the retina?No, but it does affect the cornea
Low levels of -lipoprotein are implicated in three corneal conditions. What are they?--LCAT deficiency--Fish eye disease--Tangier disease
DDx for an RP-like Fundus
![Page 234: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/234.jpg)
‘Pseudo-RP’
234
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndromealpha
Is a-alpha-lipoproteinemia a thing?Indeed it is, but it’s not called that, for obvious reasons
Does the absence of -lipoprotein affect the retina?No, but it does affect the cornea
Low levels of -lipoprotein are implicated in three corneal conditions. What are they?--LCAT deficiency--Fish eye disease--Tangier disease
So, the hypolipoproteinemias can be divided into those involving -lipoproteins, which
lead to pathology of the cornea…
DDx for an RP-like Fundus
![Page 235: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/235.jpg)
‘Pseudo-RP’
235
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndromealpha
Is a-alpha-lipoproteinemia a thing?Indeed it is, but it’s not called that, for obvious reasons
Does the absence of -lipoprotein affect the retina?No, but it does affect the cornea
Low levels of -lipoprotein are implicated in three corneal conditions. What are they?--LCAT deficiency--Abetalipoproteinemia (Bassen-Korzweig)--Familial hypobetalipoproteinemia
Low levels of -lipoprotein are implicated in three corneal conditions. What are they?--LCAT deficiency--Fish eye disease--Tangier disease
So, the hypolipoproteinemias can be divided into those involving -lipoproteins, which
lead to pathology of the cornea…
…and -lipoproteins, which lead to pathology of the retina
DDx for an RP-like Fundus
![Page 236: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/236.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella
236
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
infection
infection
DDx for an RP-like Fundus
![Page 237: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/237.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella
237
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
DDx for an RP-like Fundus
![Page 238: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/238.jpg)
238
Congenital rubella Congenital syphilis
DDx for an RP-like Fundus
![Page 239: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/239.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
239
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--?--?--Others
DDx for an RP-like Fundus
![Page 240: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/240.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
240
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 241: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/241.jpg)
241
Toxoplasmosis HSV
DDx for an RP-like Fundus
![Page 242: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/242.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy
242
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 243: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/243.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy
243
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 244: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/244.jpg)
244
CAR
DDx for an RP-like Fundus
![Page 245: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/245.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy
245
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
Cancer-associated retinopathy
What is cancer-associated retinopathy (CAR)?A paraneoplastic process in which retinal cells display antigens that are identical to, or cross-react with, cancer cells within the body. Subsequent to sensitization to these antigens on the cancer cells, the immune system attacks the same/similar antigens in the retina. This can produce profound retinal degeneration, resulting in loss of both visual function and the ERG response.
DDx for an RP-like Fundus
![Page 246: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/246.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy
246
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
Cancer-associated retinopathy
What is cancer-associated retinopathy (CAR)?A paraneoplastic process in which retinal cells display antigens that are identical to, or cross-react with, cancer cells within the body. Subsequent to sensitization to these antigens on the cancer cells, the immune system attacks the same/similar antigens in the retina. This can produce profound retinal degeneration, resulting in loss of both visual function and the ERG response.
DDx for an RP-like Fundus
![Page 247: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/247.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
247
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
eponym-eponym
DDx for an RP-like Fundus
![Page 248: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/248.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
248
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 249: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/249.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
249
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?------Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
DDx for an RP-like Fundus
![Page 250: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/250.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
250
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
DDx for an RP-like Fundus
![Page 251: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/251.jpg)
251
Kearns-Sayre syndrome: Pigmentary retinopathy
DDx for an RP-like Fundus
![Page 252: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/252.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
252
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
What does CPEO stand for?Chronic progressive external ophthalmoplegia
Which EOMs are typically affected first?The levators; ie, ptosis is the first manifestation. However, the disease is relentlessly progressive, and eventually all of the EOMs are paralyzed
DDx for an RP-like Fundus
![Page 253: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/253.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
253
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
What does CPEO stand for?Chronic progressive external ophthalmoplegia
Which EOMs are typically affected first?The levators; ie, ptosis is the first manifestation. However, the disease is relentlessly progressive, and eventually all of the EOMs are paralyzed
DDx for an RP-like Fundus
![Page 254: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/254.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
254
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
What does CPEO stand for?Chronic progressive external ophthalmoplegia
Which EOMs are typically affected first?The levators; ie, ptosis is the first manifestation. However, the disease is relentlessly progressive, and eventually all of the EOMs are paralyzed
DDx for an RP-like Fundus
![Page 255: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/255.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
255
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
What does CPEO stand for?Chronic progressive external ophthalmoplegia
Which EOMs are typically affected first?The levators; ie, ptosis is the first manifestation. However, the disease is relentlessly progressive, and eventually all of the EOMs are paralyzed.
DDx for an RP-like Fundus
![Page 256: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/256.jpg)
256
CPEO
DDx for an RP-like Fundus
![Page 257: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/257.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
257
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
Are the cardiac-conduction problems serious?Yes, they can be life-threatening
DDx for an RP-like Fundus
![Page 258: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/258.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
258
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
Are the cardiac-conduction problems serious?Yes, they can be life-threatening
DDx for an RP-like Fundus
![Page 259: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/259.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
259
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
DDx for an RP-like Fundus
![Page 260: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/260.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
260
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
DDx for an RP-like Fundus
![Page 261: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/261.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
261
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
DDx for an RP-like Fundus
![Page 262: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/262.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
262
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?‘Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
DDx for an RP-like Fundus
![Page 263: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/263.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
263
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?‘Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
DDx for an RP-like Fundus
![Page 264: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/264.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
264
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?‘Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
DDx for an RP-like Fundus
![Page 265: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/265.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
265
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?‘Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
DDx for an RP-like Fundus
![Page 266: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/266.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
266
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?‘Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
DDx for an RP-like Fundus
![Page 267: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/267.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
267
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?‘Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
Why is the order important?Because in making the proper diagnosis, the astute ophthalmologist can refer the pt to a cardiologist before s/he has a fatal dysrhythmia
DDx for an RP-like Fundus
![Page 268: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/268.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome
268
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What is the classic triad of Kearns-Sayre syndrome?--Pigmentary retinopathy--CPEO--Cardiac conduction abnormalities
In very general terms, what sort of disease is K-SS?A mitochondrial disease
What is the classic finding on muscle biopsy?‘Ragged red fibers’
At what age do symptoms begin occurring?Usually shortly before age 10 years
Of the classic triad, which is the first to occur?The ophthalmoplegia (usually the ptosis)
Why is the order important?Because in making the proper diagnosis, the astute ophthalmologist can refer the pt to a cardiologist before s/he has a fatal dysrhythmia
DDx for an RP-like Fundus
![Page 269: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/269.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis
269
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 270: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/270.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN
270
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
four-letter abb. for infectious cause
DDx for an RP-like Fundus
![Page 271: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/271.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN
271
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 272: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/272.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN
272
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What does DUSN stand for?Diffuse unilateral subacute neuroretinitis
When should you consider that a case of ‘RP’ might in fact be DUSN?When it is so-called ‘unilateral RP’
DDx for an RP-like Fundus
![Page 273: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/273.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN
273
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What does DUSN stand for?Diffuse unilateral subacute neuroretinitis
When should you consider that a case of ‘RP’ might in fact be DUSN?When it is so-called ‘unilateral RP’
DDx for an RP-like Fundus
![Page 274: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/274.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN
274
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What does DUSN stand for?Diffuse unilateral subacute neuroretinitis
When should you consider that a case of ‘RP’ might in fact be DUSN?When it is so-called ‘unilateral RP’
What is the cause?Infestation by a worm (most commonly, Baylisacaris )
DDx for an RP-like Fundus
![Page 275: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/275.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN
275
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What does DUSN stand for?Diffuse unilateral subacute neuroretinitis
When should you consider that a case of ‘RP’ might in fact be DUSN?When it is so-called ‘unilateral RP’
What is the cause?Infestation by a worm (most commonly, Baylisacaris )type of
bug specific bug
DDx for an RP-like Fundus
![Page 276: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/276.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN
276
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What does DUSN stand for?Diffuse unilateral subacute neuroretinitis
When should you consider that a case of ‘RP’ might in fact be DUSN?When it is so-called ‘unilateral RP’
What is the cause?Infestation by a worm (most commonly, Baylisacaris )
DDx for an RP-like Fundus
![Page 277: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/277.jpg)
277
DUSN (circle indicates the worm’s location)
DDx for an RP-like Fundus
![Page 278: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/278.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN
278
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What does DUSN stand for?Diffuse unilateral subacute neuroretinitis
When should you consider that a case of ‘RP’ might be DUSN?When it is so-called ‘unilateral RP’
DDx for an RP-like Fundus
![Page 279: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/279.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN
279
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What does DUSN stand for?Diffuse unilateral subacute neuroretinitis
When should you consider that a case of ‘RP’ might be DUSN?When it is so-called ‘unilateral RP’
DDx for an RP-like Fundus
![Page 280: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/280.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN
280
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
What does DUSN stand for?Diffuse unilateral subacute neuroretinitis
When should you consider that a case of ‘RP’ might be DUSN?When it is so-called ‘unilateral RP’
For more on DUSN, see slide-set R15. If it’s not available, an abbreviated coverage of DUSN can be found in the White Dot Syndrome set (R16). Or, email me and I’ll send you a copy of R15.
DDx for an RP-like Fundus
![Page 281: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/281.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO
281
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
four-letter abb. for a vascular cause
DDx for an RP-like Fundus
![Page 282: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/282.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO
282
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 283: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/283.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
283
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--?--?--Others
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 284: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/284.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
284
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 285: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/285.jpg)
285
Thioridazine: Pigmentary retinopathy Hydroxychloroquine retinopathy
DDx for an RP-like Fundus
![Page 286: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/286.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
286
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
Note: Hydroxychloroquine (Plaquenil) toxicity is addressed in detail in its own slide-set
DDx for an RP-like Fundus
![Page 287: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/287.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
287
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--OthersWhat class of medicine is thioridazine?
It is a phenothiazine
What are the phenothiazines used to treat?Their main use is as antipsychotics
Is thioridazine retinal toxicity dose-related?Very much so. At doses of 800 mg/day or less, retinopathy is very rare. However, at higher doses, it can develop within a matter of weeks
How does thioridazine retinopathy present clinically?The pt with c/o blurry vision; DFE will reveal pigment stippling in the macula
Does thioridazine use require periodic ophthalmic evaluations like hydroxychloroquine does?Not so long as the dose is at or below 800 mg/day
DDx for an RP-like Fundus
![Page 288: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/288.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
288
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--OthersWhat class of medicine is thioridazine?
It is a phenothiazine
What are the phenothiazines used to treat?Their main use is as antipsychotics
Is thioridazine retinal toxicity dose-related?Very much so. At doses of 800 mg/day or less, retinopathy is very rare. However, at higher doses, it can develop within a matter of weeks
How does thioridazine retinopathy present clinically?The pt with c/o blurry vision; DFE will reveal pigment stippling in the macula
Does thioridazine use require periodic ophthalmic evaluations like hydroxychloroquine does?Not so long as the dose is at or below 800 mg/day
DDx for an RP-like Fundus
![Page 289: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/289.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
289
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--OthersWhat class of medicine is thioridazine?
It is a phenothiazine
What are the phenothiazines used to treat?Their main use is as antipsychotics
Is thioridazine retinal toxicity dose-related?Very much so. At doses of 800 mg/day or less, retinopathy is very rare. However, at higher doses, it can develop within a matter of weeks
How does thioridazine retinopathy present clinically?The pt with c/o blurry vision; DFE will reveal pigment stippling in the macula
Does thioridazine use require periodic ophthalmic evaluations like hydroxychloroquine does?Not so long as the dose is at or below 800 mg/day
DDx for an RP-like Fundus
![Page 290: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/290.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
290
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--OthersWhat class of medicine is thioridazine?
It is a phenothiazine
What are the phenothiazines used to treat?Their main use is as antipsychotics
Is thioridazine retinal toxicity dose-related?Very much so. At doses of 800 mg/day or less, retinopathy is very rare. However, at higher doses, it can develop within a matter of weeks
How does thioridazine retinopathy present clinically?The pt with c/o blurry vision; DFE will reveal pigment stippling in the macula
Does thioridazine use require periodic ophthalmic evaluations like hydroxychloroquine does?Not so long as the dose is at or below 800 mg/day
DDx for an RP-like Fundus
![Page 291: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/291.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
291
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--OthersWhat class of medicine is thioridazine?
It is a phenothiazine
What are the phenothiazines used to treat?Their main use is as antipsychotics
Is thioridazine retinal toxicity dose-related?Very much so. At doses of 800 mg/day or less, retinopathy is very rare. However, at higher doses, it can develop within a matter of weeks
How does thioridazine retinopathy present clinically?The pt with c/o blurry vision; DFE will reveal pigment stippling in the macula
Does thioridazine use require periodic ophthalmic evaluations like hydroxychloroquine does?Not so long as the dose is at or below 800 mg/day
DDx for an RP-like Fundus
![Page 292: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/292.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
292
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--OthersWhat class of medicine is thioridazine?
It is a phenothiazine
What are the phenothiazines used to treat?Their main use is as antipsychotics
Is thioridazine retinal toxicity dose-related?Very much so. At doses of 800 mg/day or less, retinopathy is very rare. However, at higher doses, it can develop within a matter of weeks
How does thioridazine retinopathy present clinically?The pt with c/o blurry vision; DFE will reveal pigment stippling in the macula
Does thioridazine use require periodic ophthalmic evaluations like hydroxychloroquine does?Not so long as the dose is at or below 800 mg/day
#
DDx for an RP-like Fundus
![Page 293: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/293.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
293
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--OthersWhat class of medicine is thioridazine?
It is a phenothiazine
What are the phenothiazines used to treat?Their main use is as antipsychotics
Is thioridazine retinal toxicity dose-related?Very much so. At doses of 800 mg/day or less, retinopathy is very rare. However, at higher doses, it can develop within a matter of weeks
How does thioridazine retinopathy present clinically?The pt with c/o blurry vision; DFE will reveal pigment stippling in the macula
Does thioridazine use require periodic ophthalmic evaluations like hydroxychloroquine does?Not so long as the dose is at or below 800 mg/day
DDx for an RP-like Fundus
![Page 294: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/294.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
294
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--OthersWhat class of medicine is thioridazine?
It is a phenothiazine
What are the phenothiazines used to treat?Their main use is as antipsychotics
Is thioridazine retinal toxicity dose-related?Very much so. At doses of 800 mg/day or less, retinopathy is very rare. However, at higher doses, it can develop within a matter of weeks
How does thioridazine retinopathy present clinically?The pt with c/o blurry vision; DFE will reveal pigment stippling in the macula
Does thioridazine use require periodic ophthalmic evaluations like hydroxychloroquine does?Not so long as the dose is at or below 800 mg/day
DDx for an RP-like Fundus
![Page 295: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/295.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
295
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--OthersWhat class of medicine is thioridazine?
It is a phenothiazine
What are the phenothiazines used to treat?Their main use is as antipsychotics
Is thioridazine retinal toxicity dose-related?Very much so. At doses of 800 mg/day or less, retinopathy is very rare. However, at higher doses, it can develop within a matter of weeks
How does thioridazine retinopathy present clinically?The pt with c/o blurry vision; DFE will reveal pigment stippling in the macula
Does thioridazine use require periodic ophthalmic evaluations like hydroxychloroquine does?Not so long as the dose is at or below 800 mg/day
DDx for an RP-like Fundus
![Page 296: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/296.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
296
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--OthersWhat class of medicine is thioridazine?
It is a phenothiazine
What are the phenothiazines used to treat?Their main use is as antipsychotics
Is thioridazine retinal toxicity dose-related?Very much so. At doses of 800 mg/day or less, retinopathy is very rare. However, at higher doses, it can develop within a matter of weeks
How does thioridazine retinopathy present clinically?The pt with c/o blurry vision; DFE will reveal pigment stippling in the macula
Does thioridazine use require periodic ophthalmic evaluations like hydroxychloroquine does?Not so long as the dose is at or below 800 mg/day
DDx for an RP-like Fundus
![Page 297: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/297.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
297
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--OthersWhat class of medicine is thioridazine?
It is a phenothiazine
What are the phenothiazines used to treat?Their main use is as antipsychotics
Is thioridazine retinal toxicity dose-related?Very much so. At doses of 800 mg/day or less, retinopathy is very rare. However, at higher doses, it can develop within a matter of weeks
How does thioridazine retinopathy present clinically?The pt with c/o blurry vision; DFE will reveal pigment stippling in the macula
Does thioridazine use require periodic ophthalmic evaluations like hydroxychloroquine does?Not so long as the dose is at or below 800 mg/day
DDx for an RP-like Fundus
![Page 298: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/298.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
298
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
What tests should be run to determine whether a pt has RP?--An ERG (if it’s not markedly abnormal, it’s not RP)--Kinetic (ie, Goldmann, not Humphrey) VF testing. Again--if it’s not abnormal, it’s not RP--Dark adaptometry (ditto)
DDx for an RP-like Fundus
![Page 299: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/299.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
299
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
What tests should be run to determine whether a pt has RP?--An ERG (if it’s not markedly abnormal, it’s not RP)--Kinetic (ie, Goldmann, not Humphrey) VF testing. Again--if it’s not abnormal, it’s not RP.--Dark adaptometry (ditto)
DDx for an RP-like Fundus
![Page 300: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/300.jpg)
300
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
How do you rule-in pseudo-RP?Some causes can be identified by the presence (or absence) of certain signs/symptoms…Some via pertinent lab results…Some by their unilaterality…Some by history...
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 301: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/301.jpg)
301
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
How do you rule-in pseudo-RP?Some causes can be identified by the presence (or absence) of certain signs/symptoms…Some via pertinent lab results…Some by their unilaterality…Some by history...
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 302: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/302.jpg)
302
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
How do you rule-in pseudo-RP?Some causes can be identified by the presence (or absence) of certain signs/symptoms…Some via pertinent lab results…Some by their unilaterality…Some by history...
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
Cancer-associated retinopathy
DDx for an RP-like Fundus
![Page 303: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/303.jpg)
303
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
How do you rule-in pseudo-RP?Some causes can be identified by the presence (or absence) of certain signs/symptoms…Some via pertinent lab results…Some by their unilaterality…Some by history...
‘Pseudo-RP’ Congenital syphilis Congenital rubella (+/- Infectious retinitis)
Cancer-associated retinopathy Kearns-Sayre syndrome (+/- Severe uveitis) DUSN CRAO Drug toxicity
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 304: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/304.jpg)
304
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
How do you rule-in pseudo-RP?Some causes can be identified by the presence (or absence) of certain signs/symptoms…Some via pertinent lab results…Some by their unilaterality…Some by history...
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
Cancer-associated retinopathy
DDx for an RP-like Fundus
![Page 305: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/305.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
305
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
-- Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
--Usher syndrome: Check hearing
--The peroxisomal disorders: Check serum levels of ‘very long chain fatty acids’ +/- phytanic acid levels
--Batten disease: Punt to a geneticist
--Ciliopathies: Primarily clinical (confirmatory genetics by a geneticist), but remember the following:----Joubert syndrome: Molar-tooth sign on brainstem MRI--Abetalipoproteinemia: As discussed
How do you rule-in the causes of secondary RP?
DDx for an RP-like Fundus
![Page 306: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/306.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
306
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
-- Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
--Usher syndrome: Check hearing
--The peroxisomal disorders: Check serum levels of ‘very long chain fatty acids’ +/- phytanic acid levels
--Batten disease: Punt to a geneticist
--Ciliopathies: Primarily clinical (confirmatory genetics by a geneticist), but remember the following:----Joubert syndrome: Molar-tooth sign on brainstem MRI----Senior-Løken: Check renal--Abetalipoproteinemia: As discussed
How do you rule-in the causes of secondary RP?
DDx for an RP-like Fundus
![Page 307: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/307.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
307
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
-- Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
--Usher syndrome: Check hearing
--The peroxisomal disorders: Check serum levels of ‘very long chain fatty acids’ +/- phytanic acid levels
--Batten disease: Punt to a geneticist
--Ciliopathies: Primarily clinical (confirmatory genetics by a geneticist), but remember the following:----Joubert syndrome: Molar-tooth sign on brainstem MRI--Abetalipoproteinemia: As discussed
How do you rule-in the causes of secondary RP?
DDx for an RP-like Fundus
![Page 308: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/308.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
308
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
-- Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
--Usher syndrome: Check hearing
--The peroxisomal disorders: Check serum levels of ‘very long chain fatty acids’ +/- phytanic acid levels
--Batten disease: Punt to a geneticist
--Ciliopathies: Primarily clinical (confirmatory genetics by a geneticist), but remember the following:----Joubert syndrome: Molar-tooth sign on brainstem MRI--Abetalipoproteinemia: As discussed
How do you rule-in the causes of secondary RP?
DDx for an RP-like Fundus
![Page 309: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/309.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
309
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
-- Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
--Usher syndrome: Check hearing
--The peroxisomal disorders: Check serum levels of ‘very long chain fatty acids’ +/- phytanic acid levels
--Batten disease: Punt to a geneticist
--Ciliopathies: Primarily clinical (confirmatory genetics by a geneticist), but remember the following:----Joubert syndrome: Molar-tooth sign on brainstem MRIfunction
--Abetalipoproteinemia: As discussed
How do you rule-in the causes of secondary RP?
DDx for an RP-like Fundus
![Page 310: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/310.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
310
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
-- Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
--Usher syndrome: Check hearing
--The peroxisomal disorders: Check serum levels of ‘very long chain fatty acids’ +/- phytanic acid levels
--Batten disease: Punt to a geneticist
--Ciliopathies: Primarily clinical (confirmatory genetics by a geneticist), but remember the following:----Joubert syndrome: Molar-tooth sign on brainstem MRI----Senior-Løken: Check renal function
How do you rule-in the causes of secondary RP?
DDx for an RP-like Fundus
![Page 311: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/311.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
311
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
-- Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
--Usher syndrome: Check hearing
--The peroxisomal disorders: Check serum levels of ‘very long chain fatty acids’ +/- phytanic acid levels
--Batten disease: Punt to a geneticist
--Ciliopathies: Primarily clinical (confirmatory genetics by a geneticist), but remember the following:----Joubert syndrome: Molar-tooth sign on brainstem MRI----Senior-Løken: Check--Abetalipoproteinemia: As discussed
How do you rule-in the causes of secondary RP?
DDx for an RP-like Fundus
![Page 312: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/312.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
312
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
-- Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
--Usher syndrome: Check hearing
--The peroxisomal disorders: Check serum levels of ‘very long chain fatty acids’ +/- phytanic acid levels
--Batten disease: Punt to a geneticist
--Ciliopathies: Primarily clinical (confirmatory genetics by a geneticist), but remember the following:----Joubert syndrome: Molar-tooth sign on brainstem MRI----Senior-Løken: Check renal function
How do you rule-in the causes of secondary RP?
DDx for an RP-like Fundus
![Page 313: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/313.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
313
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
-- Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
--Usher syndrome: Check hearing
--The peroxisomal disorders: Check serum levels of ‘very long chain fatty acids’ +/- phytanic acid levels
--Batten disease: Punt to a geneticist
--Ciliopathies: Primarily clinical (confirmatory genetics by a geneticist), but remember the following:----Joubert syndrome: Molar-tooth sign on brainstem MRI----Senior-Løken: Check renal functiondiscussed
How do you rule-in the causes of secondary RP?
DDx for an RP-like Fundus
![Page 314: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/314.jpg)
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
314
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
Primary RP(aka typical RP)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
--aka ‘Batten dz’
--aka ‘Bassen-Kornzweig dz’
-- Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
--Usher syndrome: Check hearing
--The peroxisomal disorders: Check serum levels of ‘very long chain fatty acids’ +/- phytanic acid levels
--Batten disease: Punt to a geneticist
--Ciliopathies: Primarily clinical (confirmatory genetics by a geneticist), but remember the following:----Joubert syndrome: Molar-tooth sign on brainstem MRI
--Abetalipoproteinemia: As discussed
How do you rule-in the causes of secondary RP?
DDx for an RP-like Fundus
![Page 315: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/315.jpg)
315
tl;dr starts on the next slide
![Page 316: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/316.jpg)
?
316
??
(When you hear RP-like fundus…these three categories should instantly spring to mind!
DDx for an RP-like Fundus
![Page 317: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/317.jpg)
‘Pseudo-RP’
317
Secondary RP(aka Complex RP; Syndromic RP)
Primary RP(aka typical RP)
(When you hear RP-like fundus…these three categories should instantly spring to mind—make sure they do!
DDx for an RP-like Fundus
![Page 318: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/318.jpg)
‘Pseudo-RP’
318
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) ? ?
? ceroid lipofuscinoses
?
?
Next, make sure you can name the five categories of secondary/syndromic RP. Toggle back and forth between this slide and the previous one until you can name all five with ease!
DDx for an RP-like Fundus
![Page 319: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/319.jpg)
‘Pseudo-RP’
319
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
(aka Batten dz)
Next, make sure you can name the five categories of secondary/syndromic RP. Toggle back and forth between this slide and the previous one until you can name all five with ease!
(aka Bassen-Korzweig dz)
DDx for an RP-like Fundus
![Page 320: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/320.jpg)
‘Pseudo-RP’
320
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
(aka Batten dz)
(aka Bassen-Korzweig dz)
--?--?--?
--?--?--?--?
Then, make sure you can name the three peroxisomal disorders and the four ciliopathies. Again, toggle back and forth between this slide and the previous one until you’ve mastered them all.
DDx for an RP-like Fundus
![Page 321: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/321.jpg)
‘Pseudo-RP’
321
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
(aka Batten dz)
Then, make sure you can name the three peroxisomal disorders and the four ciliopathies. Again, toggle back and forth between this slide and the previous one until you’ve mastered them all.
(aka Bassen-Korzweig dz)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
DDx for an RP-like Fundus
![Page 322: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/322.jpg)
‘Pseudo-RP’
322
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
(aka Batten dz)
(aka Bassen-Korzweig dz)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
?--
?--?--?--
?--?--
?--?--?--
?--
These are my best guesses (emphasis on guesses) regarding factoids that should be kept in mind for each. Toggle!
DDx for an RP-like Fundus
![Page 323: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/323.jpg)
‘Pseudo-RP’
323
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
(aka Batten dz)
These are my best guesses (emphasis on guesses) regarding factoids that should be kept in mind for each. Toggle!
(aka Bassen-Korzweig dz)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
Deaf/blind--
Elevated VLCFAs--Dreadful prognoses--
Only Refsum treatable--
Progressive neuro decline--Death teens/early adult--
Cilia JABS you in the eye--Relentless renal failure--
‘Molar tooth sign’ in Joubert--
Acanthocytosis of RBCs--
DDx for an RP-like Fundus
![Page 324: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/324.jpg)
324
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
(aka Batten dz)
(aka Bassen-Korzweig dz)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
Deaf/blind--
Elevated VLCFAs--Dreadful prognoses--
Only Refsum treatable--
Progressive neuro decline--Death teens/early adult--
Cilia JABS you in the eye--Relentless renal failure--
‘Molar tooth sign’ in Joubert--
Acanthocytosis of RBCs--
Speaking of guesses…These are the causes of pseudo-RP I would pay particular attention to.
‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
DDx for an RP-like Fundus
![Page 325: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/325.jpg)
325
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
(aka Batten dz)
(aka Bassen-Korzweig dz)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
Deaf/blind--
Elevated VLCFAs--Dreadful prognoses--
Only Refsum treatable--
Progressive neuro decline--Death teens/early adult--
Cilia JABS you in the eye--Relentless renal failure--
‘Molar tooth sign’ in Joubert--
Acanthocytosis of RBCs--
‘Pseudo-RP’‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
Speaking of guesses…These are the causes of pseudo-RP I would pay particular attention to.
DDx for an RP-like Fundus
![Page 326: DDx for an RP-like Fundus](https://reader030.vdocuments.us/reader030/viewer/2022011723/61d2bf100dd060405d0fd95e/html5/thumbnails/326.jpg)
326
Primary RP(aka typical RP)
Secondary RP(aka Complex RP; Syndromic RP) Usher syndrome Peroxisomal disorders
Neuronal ceroid lipofuscinoses
Ciliopathies
Abetalipoproteinemia
(aka Batten dz)
(aka Bassen-Korzweig dz)
--Zellweger syndrome--Neonatal adrenoleukodystrophy--Infantile Refsum dz
--Bardet-Biedl syndrome--Alström syndrome--Joubert syndrome--Senior-Løken syndrome
Deaf/blind--
Elevated VLCFAs--Dreadful prognoses--
Only Refsum treatable--
Progressive neuro decline--Death teens/early adult--
Cilia JABS you in the eye--Relentless renal failure--
‘Molar tooth sign’ in Joubert--
Acanthocytosis of RBCs--
‘Pseudo-RP’‘Pseudo-RP’ Congenital syphilis Congenital rubella Infectious retinitis
Cancer-associated retinopathy Kearns-Sayre syndrome Severe uveitis DUSN CRAO Drug toxicity
--Hydroxychloroquine--Thioridazine--Others
--Toxoplasmosis--HSV--Others
Speaking of guesses…These are the causes of pseudo-RP I would pay particular attention to.
Note: I’m not suggesting the other conditions are low-yield topics for the OKAP. Rather, I think they are unlikely to be the correct answer to a question intended to test your knowledge of RP imitators.
DDx for an RP-like Fundus