May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
Increased Prevalence of Autoimmunity in Families of Patients With White Spot Syndromes
Author Affiliations & Notes
  • R.B. Pearlman
    Department of Ophthalmology, Northwestern University School of Medicine, Chicago, IL
  • L.M. Jampol
    Department of Ophthalmology, Northwestern University School of Medicine, Chicago, IL
  • L.A. Yannuzzi
    LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, NY
  • White Spot Working Group
    Department of Ophthalmology, Northwestern University School of Medicine, Chicago, IL
  • Footnotes
    Commercial Relationships  R.B. Pearlman, None; L.M. Jampol, None; L.A. Yannuzzi, None.
  • Footnotes
    Support  Macular Society
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 5643. doi:
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      R.B. Pearlman, L.M. Jampol, L.A. Yannuzzi, White Spot Working Group; Increased Prevalence of Autoimmunity in Families of Patients With White Spot Syndromes . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5643.

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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 
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