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J. R. Heckenlively, J. Oversier, H. Ferreyra, T. Jayasundera, K. Branham; Autoimmune Disorders Are Very Common in Family Members of Patients With Autoimmune Retinopathy: Car, Mar, and Typical Non-paraneoplastic Autoimmune Retinopathy.. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3751.
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To investigate the prevalence of autoimmune diseases in patients with autoimmune retinopathy (AIR). The main categories of AIR studied were cancer-associated retinopathy (CAR), melanoma-associated retinopathy (MAR), and a larger group of non-paraneoplastic autoimmune retinopathy (npAIR).
As part of an evaluation atypical retinopathy, patients had comprehensive pedigrees (family histories) taken for retinal disease and autoimmune disorders in their families. Once patients were determined to have CAR, MAR, or npAIR, based on their meeting diagnostic criteria the pedigree’s were examined for the presence of autoimmune diseases in other family members. If at least two immediate members in the pedigree had autoimmune disease (e.g., systemic lupus erythematosa, asthma, crohn’s disease, multiple sclerosis, psoriasis, rheumatoid arthritis, stiff man syndrome, diabetes, and thyroid disease), the history was considered positive.
An autoimmune family history was common in all AIR groups: npAIR [66%, (16/24)], CAR [50% (3/6)], MAR [82%, (9/11)]. The patients with the strongest AI family histories also seemed more recalcitrant to immunosuppressive treatment.
The presence of autoimmune disorders in patients’ families is an important factor in the assessment of patients suspected of having autoimmune retinopathy. It suggests that having autoimmune genes is an important suspectibility factor for patients who develop AIR (CAR, MAR, npAIR). Heckenlively JR, Ferreyra H. Autoimmune retinopathy: A review and summary. Seminars in Immunopathology, Springer-Verlag Publ. Semin Immunopathol. 2008; 30:127-134.
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