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

2018 
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.
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