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Article
November 1985

Retinal Telangiectasis in Facioscapulohumeral Muscular Dystrophy With Deafness

Author Affiliations

From the Department of Clinical Ophthalmology, Institute of Ophthalmology, Moorfields Eye Hospital (Drs Gurwin, Fitzsimons, Sehmi, and Bird), and the Department of Pediatrics, Hammersmith Hospital (Dr Fitzsimons), London.

Arch Ophthalmol. 1985;103(11):1695-1700. doi:10.1001/archopht.1985.01050110089033
Abstract

• A 22-year-old patient with newly diagnosed facioscapulohumeral (FSH) muscular dystrophy had a macular lesion in her right eye and poor central vision, which had been present since early childhood. Fluorescein angiographic examination revealed bilateral peripheral vessel closure, peripheral retinal telangiectasis, and hyperfluorescence in both foveae. This widespread vascular abnormality was deemed responsible for her macular disease. Her mother, brother, and sister, all of whom are affected by varying degrees of FSH muscular dystrophy and clinical deafness, also have abnormal retinal vasculature, as determined by fluorescein angiography. However, none had related visual symptoms and two showed no ophthalmoscopic evidence of vascular abnormalities. In young patients with unexplained retinal vascular lesions, the diagnosis of FSH muscular dystrophy should be considered. Similarly, young patients with FSH muscular dystrophy should be examined for sight-threatening and potentially treatable vascular retinopathy.

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