This case highlights an atypical presentation of Coats' syndrome in an elderly female with facioscapulohumeral dystrophy, demonstrating the phenotypic variation of inherited disorders.
Atypical Coats' syndrome in elderly females with FSHD; extends known phenotype but leaves open generalizability.
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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Akshikar et al. (2018) studied this question.
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