Retina Conference

Janelle Fassbender, MD, PhDUniversity of Louisville

Department of Ophthalmology and Visual Sciences

01/23/2014

Subjective

CC/HPI: 52 year old HF c/o the right half of faces looking abnormal.

POH: NonePMH: Hypertension, hyperlipidemia,

type 2 DMMeds: Metformin, 3 anti-hypertensive

agents, omeprazole, prevastatinFOH: Mother with macular hole

Objective

OD OS

Va(sc): 20/20-2 20/50-2

Pupils: 3 No RAPD 3IOP: 20 19EOM: Full

Full

Anterior and Posterior Segments

Anterior segment: WNL OUON: c/d 0.2 pink/sharp c/d 0.2 pink/sharp

Macula: Cystic foveal lesion Cystic foveal lesion

Vessels: WNL WNL

Periphery: WNL WNL

OD OS

OCTOD OS

OCT ODParafoveal intra-retinal cavity extending to and involving the outer retina; irregularity of the ELM, focal discontinuity of the photoreceptor ellipsoid line and cone outer segment sheaths

OCT OSIntra-retinal cystic foveal lesion extending to RPE with interruption of the photoreceptor outer segments.

Fluorescein angiogram

OD: Mid A-V phase with leakage temporal to fovea.

Fluorescein angiogram

OS: Temporal leakage and focal hyperfluorescence.

Differential Diagnosis

Parafoveal telangiectasia Non-Proliferative Diabetic

Retinopathy Stage 1 macular hole Hypertensive retinopathy Branch retinal vein occlusion

Diagnosis

Parafoveal telangiectasia

Plan Follow up in 4-5 months.

Parafoveal telangiectasia

Also known as idiopathic juxtafoveolar retinal telangiectasis or idiopathic macular telangiectasia

First described by Gass in 1968 Initial classification in 1982 by Gass and

Oyakawa Heterogeneous group of disorders classified

into 3 types with independent etiologies. Prevalence of 0.1% per Beaver Dam Eye

Study (2010)

Pathophysiology No actual telangiectasis – vessel wall

thickening with eventual capillary dilatation (Green et al, 1980; Gass et al, 1982). Metabolic alteration, endothelial permeability,

nutritional deficiency degeneration of the middle and outer retina.

Neural, Muller or endothelial cell etiology (Cohen etal,2007)? Crystalline deposit – degenerated Muller

footplates Fluorescein leakage – loss of Muller-mediated

barrier Outer retinal atrophy – loss of Muller cell

nutritional and mechanical support Cystoid spaces of type 1 compared to 2,

retinal vein occlusion, and diabetic macular edema (Oh et al, ePub ahead).

MacTel Project (2005)

International consortium to study cause, natural history, progression and epidemiology Resulted in multiple publications describing

clinical findings, diagnostic methods, and epidemiology.

27 candidate genes – None associated to MacTel (Parmalee et al, 2010).

Genome-wide linkage study (Parmalee et al,

2012): Probable AD transmission with reduced

penetrance and expressivity. Linked to 1q41-42 (LOD 3.45)

Pathophysiology ATM was characterized in 1988 as the

causal gene for ataxia telangiectasia (AT) Chronic oxidative stress resulting in DNA

damage activates ATM and leads to increased apoptotic activity.

Loss of ATM function leads to genome instability

Allelic variants noted in 13/30 macular telangiectasia, especially of European ancestry (Barbezetto, 2008). 11/16 with polypoidal choroidal vasculopathy

or macular telangiectasia (Mauget-Faysee, 2003)

Bevacizumab therapy for idiopathic macular telangiectasia

type IIKovach and Rosenfeld, Retina. 2009 Jan;29(1):27-32

Purpose: To determine if inhibition of VEGF-A affects visual acuity, fluorescein angiographic (FA), and optical coherence tomography (OCT) outcomes in patients with perifoveal telangiectasia (PT) type 2A.

Results: 9 eyes of 8 patients. After treatment, follow-up ranged from 4 to 27 months. Non-proliferative - Mean BCVA remained stable (n = 4). Proliferative - BCVA was unchanged or improved after

treatment (n = 5). All eyes demonstrated decreased intraretinal leakage on FA

after an injection of bevacizumab, and eyes with proliferative PT showed decreased growth and leakage of the subretinal neovascularization.

The mean decrease in OCT central retinal thickness – 6 um non-proliferative; 26 um proliferative.

Conclusions: Intravitreal Avastin

Non-proliferative PT: Decreases fluorescein angiographic

leakage in PT but has no short-term effect on visual acuity or OCT appearance.

Proliferative PT: Arrests the leakage and growth of

subretinal neovascularization with the possibility of visual acuity improvement.

References Oh, JH, et al. 2013. Characteristics of cystoid spaces in type 2 idiopathic

macular telangiectasia on spectral domain OCT. Retina. [Epub ahead of print]

Wu, Evans, Arevalo. 2013. Idiopathic macular telangiectasia type 2. Surv Ophthalmol, 58(6):536-59

Mauget-Faysse, et al. 2003. Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene. Invest Ophthalmol Vis Sci. 44(8):3257-62.

Barbazetto IA, et al. 2008. ATM gene variants in patients with idiopathic perifoveal telangiectasia. Invest Ophthalmol Vis Sci, 49(9):3806-11.

Kovach and Rosenfeld. 2009. Bevacizumab therapy for idiopathic macular telangiectasia type II. Retina. Jan;29(1):27-3.

Sawsan, et al. 2010. Idiopathic juxtafoveolar telangiectasia: A current review. Middle East Afr J Ophthalmol, 17(3).

Yannuzzi et al. 2006. Idiopathic macular telangiectasia. JAMA Ophthalmol, 124(4):450-460.

Parmalee, et al. 2010. Analysis of candidate genes for macular telangiectasia type 2. Molecular Vision, 16:2718-26.

Parmalee, et al. 2012. Identification of a potential susceptibility locus for macular telangiectasia type 2. PLOS One, 7(8).

Cohen et al. 2007. Optical coherence tomography findings in nonproliferative group 2a juxtafoveal retinal telangiectasis. Retina, 27(1):59-66.