1 abnormalities of pupil structure
TRANSCRIPT
![Page 1: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/1.jpg)
Abnormalities of Pupil Structure
Abnormal Pupil… Size--Congenital miosis (microcorea)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
--Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil… Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil… Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil… Number--Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
(Other than aniridia)
1
![Page 2: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/2.jpg)
Abnormalities of Pupil Structure
Abnormal Pupil…Size--Congenital miosis (microcorea)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
--Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
2
![Page 3: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/3.jpg)
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
3
![Page 4: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/4.jpg)
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
4
![Page 5: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/5.jpg)
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
5
![Page 6: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/6.jpg)
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
6
![Page 7: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/7.jpg)
Abnormalities of Pupil Structure7
Congenital microcoria
![Page 8: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/8.jpg)
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
8
![Page 9: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/9.jpg)
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
9
![Page 10: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/10.jpg)
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
10
![Page 11: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/11.jpg)
Abnormalities of Pupil Structure11
Congenital microcoria
The patient was a 73-year-old white female with bilateral congenital mydriasis and no other abnormalities. The pupils reacted almost imperceptibly to light.
![Page 12: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/12.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
12
![Page 13: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/13.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
13
![Page 14: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/14.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
14
![Page 15: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/15.jpg)
Abnormalities of Pupil Structure15
Dyscoria
Slit-shaped dyscoric pupil OS (note also the ipsilateral microcornea)
![Page 16: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/16.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Probably due to hyaloid remnants None None
16
?
?
![Page 17: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/17.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Probably due to hyaloid remnants None None
17
![Page 18: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/18.jpg)
Abnormalities of Pupil Structure18
Coloboma
Atypical Typical
![Page 19: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/19.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Probably due to hyaloid remnants None None
19
?
?
![Page 20: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/20.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Multiple etiologies implicated None None
20
![Page 21: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/21.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Multiple etiologies implicated None None
21
?
?
![Page 22: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/22.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Multiple etiologies implicated None None
22
![Page 23: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/23.jpg)
Abnormalities of Pupil Structure23
Coloboma
Right eye illustrating optic disc coloboma (small arrow) and two retinochoroidal colobomas (large arrows)
![Page 24: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/24.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Multiple etiologies implicated None None
24
?
?
![Page 25: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/25.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Multiple etiologies implicated None None
25
![Page 26: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/26.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
26
![Page 27: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/27.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
27
![Page 28: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/28.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a… sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
28
![Page 29: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/29.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
29
![Page 30: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/30.jpg)
Abnormalities of Pupil Structure30
True polycoria
Eye in bright light (A) and dim light (B). Following dilatation with tropicamide and phenylephrine (C,D)
![Page 31: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/31.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
31
![Page 32: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/32.jpg)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
32
![Page 33: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/33.jpg)
Abnormalities of Pupil Structure33
Pseudopolycoria in ICE syndrome
![Page 34: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/34.jpg)
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKassociated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
34
![Page 35: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/35.jpg)
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
35
![Page 36: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/36.jpg)
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
36
![Page 37: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/37.jpg)
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
37
![Page 38: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/38.jpg)
Abnormalities of Pupil Structure38
Corectopia
![Page 39: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/39.jpg)
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
39
![Page 40: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/40.jpg)
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral diseaseb) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
40
3 high-yield facts aboutectopia lentis et pupillae
![Page 41: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/41.jpg)
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
41
![Page 42: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/42.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
What abnormality of lens shape is present?Microspherophakia
How is the pupil dyscoric, ie, what is its shape?Slit-like
42
![Page 43: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/43.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
What abnormality of lens shape is present?Microspherophakia
How is the pupil dyscoric, ie, what is its shape?Slit-like
43
![Page 44: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/44.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
44
![Page 45: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/45.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
45
![Page 46: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/46.jpg)
Abnormalities of Pupil Structure46
Ectopia lentis et pupillae: Bilateral inferonasal displacement of dyscoric, slit-like(ish) pupils
![Page 47: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/47.jpg)
Abnormalities of Pupil Structure47
Ectopia lentis et pupillae: Pupil and lens displaced in opposite directions
![Page 48: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/48.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
48
![Page 49: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/49.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
49
![Page 50: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/50.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
50
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
![Page 51: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/51.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
51
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
![Page 52: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/52.jpg)
Abnormalities of Pupil Structure52
Microspherophakia. Note the small size, round shape of the lens
![Page 53: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/53.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
53
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
![Page 54: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/54.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
54
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
![Page 55: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/55.jpg)
Abnormalities of Pupil Structure55
Microspherophakia. Lens is able to fit through the pupillary aperture with mydriasis
![Page 56: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/56.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
56
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
![Page 57: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/57.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
57
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
![Page 58: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/58.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
58
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
![Page 59: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/59.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
59
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
![Page 60: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/60.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
60
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
![Page 61: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/61.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
61
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
![Page 62: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/62.jpg)
Abnormalities of Pupil Structure62
Weill-Marchesani syndrome: Short stature
![Page 63: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/63.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
63
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
![Page 64: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/64.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
64
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
![Page 65: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/65.jpg)
Abnormalities of Pupil Structure65
Weill-Marchesani syndrome: Short digits
![Page 66: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/66.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
66
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
![Page 67: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/67.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
67
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
![Page 68: 1 Abnormalities of Pupil Structure](https://reader031.vdocuments.us/reader031/viewer/2022011820/61d5ab27210db4575f28de3d/html5/thumbnails/68.jpg)
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
68
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
For more on W-M, see slide-set FELT14