Transcript Parafoveal Telangiectasia - University of Louisville Ophthalmology

Retina Conference
Janelle Fassbender, MD, PhD
University 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: None
PMH: Hypertension, hyperlipidemia, type 2 DM
Meds: Metformin, 3 anti-hypertensive agents,
omeprazole, prevastatin
FOH: Mother with macular hole
Objective
Va(sc):
Pupils:
IOP:
EOM:
OD
OS
20/20-2
20/50-2
3 No RAPD 3
20
19
Full
Full
Anterior and Posterior Segments
OD
OS
Anterior segment:
WNL OU
ON:
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
OCT
OD
OS
OCT OD
Parafoveal 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 OS
Intra-retinal cystic foveal lesion extending to RPE
with interruption of the photoreceptor outer
segments.
Fluorescein angiogram
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OD: Mid A-V phase with leakage temporal to fovea.
Fluorescein angiogram
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OS: Temporal leakage and focal hyperfluorescence.
Differential Diagnosis
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Parafoveal telangiectasia
Non-Proliferative Diabetic Retinopathy
Stage 1 macular hole
Hypertensive retinopathy
Branch retinal vein occlusion
Diagnosis
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Parafoveal telangiectasia
Plan
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Follow up in 4-5 months.
Parafoveal telangiectasia
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Also known as idiopathic juxtafoveolar retinal
telangiectasis or idiopathic macular telangiectasia
First described by Gass in 1968
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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
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No actual telangiectasis – vessel wall thickening with
eventual capillary dilatation (Green et al, 1980; Gass et al, 1982).
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Neural, Muller or endothelial cell etiology (Cohen etal,2007)?
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Metabolic alteration, endothelial permeability, nutritional
deficiency  degeneration of the middle and outer retina.
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)
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International consortium to study cause, natural history,
progression and epidemiology
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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):
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Probable AD transmission with reduced penetrance and
expressivity.
Linked to 1q41-42 (LOD 3.45)
Pathophysiology
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ATM was characterized in 1988 as the causal gene for
ataxia telangiectasia (AT)
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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).
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11/16 with polypoidal choroidal vasculopathy or macular
telangiectasia (Mauget-Faysee, 2003)
Bevacizumab therapy for idiopathic macular
telangiectasia type II
Kovach and Rosenfeld, Retina. 2009 Jan;29(1):27-32
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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.
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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
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Non-proliferative PT:
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Decreases fluorescein angiographic leakage in PT
but has no short-term effect on visual acuity or OCT
appearance.
Proliferative PT:
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Arrests the leakage and growth of subretinal
neovascularization with the possibility of visual
acuity improvement.
References
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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.