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Yafeng Li, Leona Serrano, Erin O'Neil, Tomas S Aleman; Detailed Phenotype of Autoimmune Retinopathies with Electroretinography, Multimodal-Imaging and Visual Psychophysics. Invest. Ophthalmol. Vis. Sci. 2020;61(7):2099.
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To facilitate the diagnosis of autoimmune retinopathy (AIR) by trying to define specific phenotypes.
Included were 27 patients seen at the Scheie Eye Institute between 2017-2019 with a clinical diagnosis of AIR based on acute/subacute onset of visual symptoms and vision loss, abnormal visual fields and electroretinography (ERG), and a paucity or absence of retinal findings. A retrospective review of records included results of the comprehensive eye exam, light- and dark-adapted two-color perimetry, ERGs and of an antiretinal antigen panel and immunohistochemistry.
The patients had an average age of 61 years. Visual acuity ranged from light perception to 20/25 (Snellen) at initial visit. Fifteen among the 27 patients had positive antiretinal antibodies (ARAs). Within this positive group, subtle retinal findings included RPE mottling (3/8, 37%), thinning of the outer nuclear layer (ONL) and/or the outer retina on OCT (8/14, 57%). A negative configuration ERG and/or reduced amplitudes of cone and/or rod ERG responses was documented in 13/15 patients (87%). The ARAs were further stratified as strong, supportive and helpful subtypes for further analysis.
Because of the heterogeneity of clinical manifestations of AIR, there has been a lack of diagnostic guidelines for this spectrum disease. Therefore, multimodal approaches for diagnosis are required. The obtained results indicate that positive ARAs combined with abnormal ERG, which reflect the state of autoimmune and retinal neuronal injury, are the important biomarkers of AIR diagnosis.
This is a 2020 ARVO Annual Meeting abstract.
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