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Landon Grange, Monica Dalal, Yujuan Wang, Chi-Chao Chan, Robert Nussenblatt, H Nida Sen; HLA polymorphisms and autoimmune markers in non-paraneoplastic autoimmune retinopathy (AIR). Invest. Ophthalmol. Vis. Sci. 2013;54(15):2514.
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Non-paraneoplastic autoimmune retinopathy (AIR) is a rare immune-mediated disease characterized by the presence of serum antiretinal autoantibodies. The present study seeks to quantify HLA allelic frequencies and autoimmune markers in the peripheral blood for a cohort of 24 patients with antiretinal antibody-confirmed non-paraneoplastic AIR.
A retrospective review was performed on 24 patients with non-paraneoplastic AIR who were seen and evaluated at the NIH. HLA markers of 18 Caucasian patients were assessed and subtyped by molecular biology, and were compared to the levels in the Caucasian population at large using the Allele Frequency Net Database. All patients underwent systemic work-up to rule out malignancy and infectious etiology. Additionally, patients were screened for the following autoimmune markers: anti-nuclear antibodies (ANA), anti-extractable nuclear antigen (Anti-ENA), anti-double stranded DNA (Anti-ds DNA), Rheumatoid Factor (RF), C-Reactive Protein (CRP), Erythrocyte Sedimentation Rate (ESR), Anti-cyclic citrullinated peptide (Anti-CCP). These results were analyzed in an effort to detect peripheral markers that could aid in the diagnosis of AIR.
All 24 confirmed cases of AIR had positive serum antiretinal antibody testing by either Western blot or immunohistochemistry. Of these, 20 (83%) were Caucasian, 19 (79.2%) were female, with an average age at presentation of 54.9 years (range 37-88, median 51.5). The majority (96%) had bilateral disease. Fourteen (58%) had a personal or family history of autoimmune disease. Analysis of blood samples from 18 Caucasian patients with confirmed AIR disclosed that HLA DRB1-03, and HLA DRB1-15 (found in 56% and 44% of subjects respectively) were more prevalent than the general population (18.6% and 17.2%) (p=0.0025 and 0.0209, respectively), and that haplotype HLA A2 (found in 17%) was significantly less prevalent than the general population (50%) (p=0.0183). Two of the 18 patients tested for ANA and Anti-ENA(11%) were strongly positive, and both of these patients had personal as well as family histories of autoimmune diseases.
Our results reveal significant association of AIR with HLA DRB1-03, and HLADRB1-15 alleles. None of the peripheral antibodies were significantly elevated in AIR. Larger cohorts are needed to confirm the significance of these findings.
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