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Data suggest autoimmune, familial connection with 'white spot' syndromes
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LAS VEGAS — Preliminary data show a growing connection between autoimmune disease and heredity in "white spot" syndromes, a group of idiopathic inflammatory diseases including multifocal choroiditis and birdshot chorioretinopathy.
Lee M. Jampol, MD, MBA, and colleagues are conducting an ongoing study of patients with white spot syndromes. The study seeks to evaluate over 200 patients and their families and compare those patients to a control group, with the future goal of developing genetic testing for the diseases, according to Dr. Jampol. He presented data from the study here at Retina Subspecialty Day preceding the American Academy of Ophthalmology meeting.
"Our studies at the present time are based upon the hypothesis that these are autoimmune diseases and they occur in families of patients with autoimmune disease," Dr. Jampol said.
Thus far, the hypothesis is supported by the data derived from 102 questionnaires and thorough questioning of relatives, he said.
More than 25% of patients in the study with birdshot or multifocal choroiditis retinitis also have another autoimmune disease. Among all patients, 22% have another autoimmune disease.
"In the population at large, we think this number should be 5%. You can see white spot patients are 22%, and in their family members it's about 10%," Dr. Jampol said. "This suggests strongly that there is a familial autoimmune component."