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.
Purpose-To identify the demographic and clinical characteristics, along with the frequency, of neoplastic masquerade syndromes in a tertiary uveitis clinic. Design-A retrospective observational cohort.Methods-Demographic and clinical data on all patients presenting to the National Eye Institute (NEI) with uveitis between 2004-2012 were used to compare neoplastic masquerade syndromes and uveitis.Results-A total of 853 patients presenting with uveitis were identified. Of these, 21 (2.5%) were diagnosed with neoplastic masquerade syndromes. The average age at presentation of masquerade syndrome patients was 57 years (median: 55, range: 38-78), for uveitis 42 years (median: 43, range: 3-98) (p=0.0003). There were 48% females in the masquerade syndromes group, compared with 59% females in the uveitis group. African American patients represented 9% of the masquerade syndrome patients and 36% of uveitis patients (p=0.01). Mean worse eye visual acuity was 0.89 (20/160) in neoplastic masquerade syndromes, and 0.66 (20/100) in the uveitis group (p=0.21). Ninety percent of masquerade syndrome patients had posterior inflammation, compared with 63% of uveitis patients (p=0.006). Forty-eight percent of the masquerade syndrome patients had unilateral disease, compared with 27% of the uveitis patients (p=0.04). Conclusion-Patientswith neoplastic masquerade syndromes were more likely to be older, male, or non-African American and to have posterior segment inflammation and unilateral disease. Patients with masquerade syndromes also had worse visual acuity than did uveitis patients. These differences in clinical characteristics may help raise the suspicion for neoplastic masquerade syndromes.
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