Coats Plus Syndrome Presenting in an Adult.

Purpose: To present a case of retinal vascular disease characterized primarily by capillary nonperfusion in an adult with Coats plus syndrome (CPS). Methods : A case and its findings were analyzed. Results : A 38-year-old woman with a history of poliosis, thrombocytopenia, seizures, and white-matter brain lesions was referred for evaluation of bilateral blurred central vision. Fluorescein angiography showed extensive bilateral retinal capillary nonperfusion with retinal arteriolitis in the right eye. Genetic testing found 2 pathological mutations in the conserved telomere maintenance component 1 ( CTC1 ) gene, diagnostic of CPS. Conclusions : Genetic testing may be diagnostic in patients who present with retinal vascular disease and systemic disease suggestive of CPS.