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Retinal telangiectasis detected during a vision screening examination in a child with hearing loss led to the diagnosis of facioscapulohumeral muscular dystrophy [Case Report]

Lee, Gregory D; Chen, Vicki M; Barnes, Alexander C; Goldman, Darin R; Duker, Jay S
A 2-year-old girl with congenital sensorineural hearing loss was found to have retinal exudation and subretinal fluid in her left eye. Further investigation revealed leaking retinal telangiectasias in her left eye and extensive areas of peripheral retinal nonperfusion in both eyes. A clinical diagnosis of facioscapulohumeral muscular dystrophy (FSHD) was confirmed by genetic testing. The patient was followed with serial intraoperative optical coherence tomography (OCT) scans, which demonstrated subretinal fluid in the macula and its subsequent resolution after treatment. She underwent 6 rounds of panretinal photocoagulation and 2 injections of intravitreal bevacizumab, which resolved the subretinal fluid and exudates.
PMID: 24924285
ISSN: 1528-3933
CID: 2696282

Initial presentation of pseudoxanthoma elasticum [Case Report]

Goldman, Darin R; Lee, Gregory D; Shah, Chirag P; Heier, Jeffrey S
PMID: 24114133
ISSN: 2168-6173
CID: 2696322