Autoimmune retinopathy

Abstract

Purpose: To provide a detailed review of current clinical guidelines for the diagnosis, work-up and treatment of autoimmune retinopathy and to preview briefly 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 antiretinal antibodies along with electroretinographic and visual field abnormalities. An ophthalmic examination can be normal or show minimal findings. The diagnosis of autoimmune retinopathy is made difficult by diagnostic criteria that are both limited and nonstandardized. Currently, the diagnosis is made based on the demonstration of serum antiretinal antibodies and the presence of clinical manifestations (including abnormal electroretinographic findings). The mere presence of these antibodies is not diagnostic. Lack of an accepted gold standard for antiretinal antibodies detection and poor interlaboratory concordance make the diagnosis challenging. There are anecdotal reports of 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 nonparaneoplastic 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 and screen for biomarkers, and they should be conducted concurrently with studies seeking to identify appropriate treatment.

Figure 1

Fundus photo of a nonparaneoplastic autoimmune retinopathy patient with 20/20 vision which demonstrates a poor foveal reflex with mild vascular attenuation, and an otherwise normal appearing fundus.

Figure 2

Fundus autofluorescence of a patient with confirmed autoimmune retinopathy reveals a ring of outer hyperautofluorescence (arrows).

Figure 3

Spectral Domain-OCT of the macula of a patient with confirmed autoimmune retinopathy reveals loss of IS-OS junction (between arrows) with preservation at the fovea (arrowhead).

Figure 4

Goldman visual field of the left eye for a patient with confirmed autoimmune retinopathy demonstrating marked constriction of the inner isopters and paracentral scotomas (shaded with diagonal lines).

Figure 5

Full-field ERG responses – the top row is from a patient with confirmed autoimmune retinopathy and the bottom row represents a healthy control. Rod responses are absent from the patient. Photopic and 30 Hz tests reveal cone responses that are extremely reduced and delayed. (Courtesy of Brett Jeffrey, PhD)