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Robert B. Pearlman, MD; Pamela R. Golchet, MD; Marni G. Feldmann, MD; Lawrence A. Yannuzzi, MD; Michael J. Cooney, MD; Jennifer E. Thorne, MD, PhD; James C. Folk, MD; Edwin H. Ryan, MD; Anita Agarwal, MD; Kathleen C. Barnes, PhD; Kevin G. Becker, PhD; Lee M. Jampol, MD

Arch Ophthalmol. 2009;127(7):869-874.

Objective  To determine whether there is an increased prevalence of systemic autoimmune diseases in both patients with white spot syndromes (WSS) and their family members.

Methods  Patients with WSS at participating institutions were asked to complete a questionnaire reporting their own medical histories as well as any autoimmune diseases among their first- and second-degree relatives.

Results  As of January 1, 2008, 114 questionnaires had been collected, providing medical histories of 114 patients with WSS and 1098 family members. The number of patients with WSS with self-reported systemic autoimmune diseases was 26 (23%). Of 1098 relatives, 106 (10%) had at least 1 autoimmune disease. Systemic autoimmunity was more prevalent in female relatives (13%) as compared with male relatives (6%). In addition, the prevalence of autoimmunity was significantly higher among first-degree relatives (13%) than second-degree relatives (8%). Patients who themselves had systemic autoimmune diseases showed a greater prevalence of systemic autoimmunity among their families as compared with the families of patients without systemic autoimmune diseases.

Conclusions  Our data indicate that there is an increased prevalence of systemic autoimmunity in both patients with WSS and their first- and second-degree relatives. This suggests that WSS occur in families with inherited immune dysregulation that predisposes to autoimmunity.

Author Affiliations: Department of Ophthalmology, Northwestern University, Chicago, Illinois (Drs Pearlman, Golchet, Feldmann, and Jampol); Manhattan Eye and Ear Infirmary, New York, New York (Drs Yannuzzi and Cooney); Wilmer Eye Institute (Dr Thorne), Department of Epidemiology, Johns Hopkins University (Dr Barnes), and National Institutes of Health (Dr Becker), Baltimore, Maryland; Department of Ophthalmology, University of Iowa, Iowa City (Dr Folk); Department of Ophthalmology, University of Minnesota, Minneapolis (Dr Ryan); and Department of Ophthalmology, Vanderbilt University, Nashville, Tennessee (Dr Agarwal).

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