Autoimmune Retinopathy

Abstract

Purpose To provide a detailed review of current clinical guidelines for the diagnosis, work-up and treatment of autoimmune retinopathy, and briefly preview possible future therapies. Design Perspective based on literature review and clinical expertise. Methods Interpretation of current literature, relying on the authors’ clinical experience. Results Autoimmune retinopathy is a rare immunologic disease characterized by the presence of circulating anti-retinal antibodies along with electroretinographic (ERG) and visual field abnormalities. Ophthalmic exam can be normal or show minimal findings. The diagnosis of autoimmune retinopathy is made difficult by diagnostic criteria which are both limited and non-standardized. Currently, the diagnosis is made based on the demonstration of serum antiretinal antibodies and the presence of clinical manifestations (including abnormal ERGs). The mere presence of these antibodies is not diagnostic. Lack of an accepted gold standard for antiretinal antibodies detection and poor inter-laboratory concordance makes the diagnosis challenging. There are anecdotal reports on immunosuppressive therapy in autoimmune retinopathy; however, the response to treatment is variable, with more favorable results achieved in paraneoplastic retinopathy, particularly cancer-associated retinopathy, with a combination of chemotherapy and immunosuppression. Whether an earlier attempt to treat non-paraneoplastic autoimmune retinopathy would be more beneficial is unknown. Early treatment attempts are limited by lack of sensitive and specific assays and definitive clinical criteria. Conclusions Little is known about the clinical course, prognosis and treatment of autoimmune retinopathy. Additional studies should examine the specificity and pathogenicity of antiretinal antibodies, screen for biomarkers, and should be conducted concurrently with studies seeking to identify appropriate treatment.

The Enigma of Autoimmune Retinopathy

“…VF testing can show constriction of VF, whereas ERG can show reduced responses, but there are no VF or ERG features that are pathognomonic for AIR. 10,11 An "electronegative" ERG has been reported in many cases of AIR, but this finding is nonspecific and has also been described in inherited retinal degenerations (eg, congenital stationary night blindness) and inflammatory eye disease (eg, birdshot chorioretinopathy). 11,13,18,19 FAF imaging and OCT in AIR have shown a hyperautofluorescent ring in the parafoveal region, with corresponding attenuation of the photoreceptor layer from the region of the hyperautofluorescent ring toward the retinal periphery.…”

“…Usually, minimal or no signs of intraocular inflammation are seen. 10 A female predominance has been described, as well as a family history of autoimmune disease. 14,15 The mean age of onset has been described in the range of 55 to 65 years, with npAIR having a younger age of onset than CAR and MAR.…”

“…Symptoms are diverse and can include subacute vision loss, diminished central vision, loss of contrast sensitivity, scotomas, photopsia, nyctalopia, photoaversion, and/or dyschromatopsia. 10,13 Symptoms are usually bilateral, but can be asymmetric. On clinical examination, the fundus can appear normal initially.…”

“…12,14,23 The overall prevalence of AIR is not known, due to a lack of population-based epidemiological data, although it has been estimated to represent far less than 1% of cases seen at a tertiary ocular immunology and uveitis clinic. 10,12 Various authors have proposed diagnostic criteria for AIR. 10,[12][13][14] However, there is no international consensus on these diagnostic criteria, and as a result the clinical features of AIR can vary considerably between different groups of clinicians.…”

“…There are numerous excellent reviews of AIR that have recently been published in the literature. [7][8][9][10][11][12][13] The purpose of this current article is not to provide another review of this topic, but rather to highlight some of the ambiguity and uncertainty that exists in this field. For the purposes of this review, the term AIR will be used to refer to CAR, npAIR, and MAR, as the ocular features and proposed pathogenesis of these entities are essentially the same.…”