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Increased Prevalence of Autoimmunity in Families of Patients With White Spot Syndromes

¹ Department of Ophthalmology, Northwestern University School of Medicine, Chicago, IL
² LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, NY

Commercial Relationships: R.B. Pearlman, None; L.M. Jampol, None; L.A. Yannuzzi, None.

Support: Macular Society

Abstract

Purpose: To determine if there is an increased prevalence of autoimmune diseases in families of patients with white spot syndromes.

Methods: Patients with white spot syndromes are being asked to participate in this study. The white dot syndromes include: MEWDS, MFC/PIC, AZOOR, APMPPE, serpiginous choroidopathy, relentless placoid chorioretinopathy, birdshot retinochoroidopathy, and AMN. The patients are asked to fill out questionnaires detailing whether their first– and second–degree relatives have the following diseases: Atopic dermatitis, alopecia areata, ankylosing spondylitis, pemphigoid, dermatomyositis, Graves’ disease, Hashimoto’s thyroiditis, insulin–dependent diabetes mellitus, inflammatory bowel disease, JRA, multiple sclerosis, psoriasis, RA, systemic lupus erythematosus, or vitiligo. We hypothesize that the prevalence of these diseases in our patients’ families is greater than that in the normal population.

Results: To date, seventy–five questionnaires have been collected. Fifty–seven (76%) are female. The average age of the patients is forty–four. The patients have MFC/PIC (47%), AZOOR (15 %), Birdshot (13%), MEWDS (9%), Serpiginous (5%), APMPPE (4%), AMN (4%), and Relentless (1%). The number of family members with autoimmune disease is: Inflammatory bowel disease (15), rheumatoid arthritis (11), psoriasis (10), Hashimoto’s (9), insulin–dependent diabetes mellitus (4), Graves’ (5), Atopic dermatitis (3), alopecia areata (5), lupus (3), and JRA (1). The prevalence of autoimmune diseases in the family members population is 10% (70 autoimmune diseases in 68/679 family members). The number of patients with autoimmune diseases is: Hashimoto’s (5), Graves' (2), psoriasis (1), alopecia areata (2), lupus (2), pemphigoid (1), rheumatoid arthritis (1), inflammatory bowel disease (1), insulin–dependent diabetes mellitus (1), and MS (1). The prevalence of autoimmune diseases in the patient population is 16% (17 autoimmune diseases in 12/75 patients).

Conclusions: Although our limited data suggests that there is an increased prevalence of autoimmunity in families of patients with white spot syndromes, no conclusions can be reached until we reach our enrollment goal of 200 patients.

Keywords: retina • uveitis-clinical/animal model • genetics

© 2006, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. For permission to reproduce any part of this abstract, contact the ARVO Office at arvo{at}arvo.org.