Atypical presentation of Coats' Syndrome in facioscapulohumeral dystrophy - Reflecting the variation in phenotypic manifestations

Abstract

Purpose: To report a unique case of atypical Coats' Syndrome in an 80 year old female with facioscapulohumeral dystrophy. Observations: An 80 years old female was diagnosed clinically of retinal telangiectasia with exudation threatening the fovia. She received a successful macular laser photocoagulation with subsequent cessation of leakage. Conclusions and importance: This case is in keeping with Coats' syndrome in fascioscapulohumeral dystrophy, which classically affects young male subjects - making this patient an obvious outlier. This once again reflects the variation in phenotypic manifestations of inherited disorders. Keywords: Atypical Coats' Syndrome, Exudative retinopathy with telangiectasia, Facioscapulohumeral dystrophy