 |
 |

Retinal Telangiectasis in Facioscapulohumeral Muscular Dystrophy With Deafness
E. B. Gurwin, MD;
R. B. Fitzsimons, FRACP;
K. S. Sehmi, FRPS;
A. C. Bird, MD
Arch Ophthalmol. 1985;103(11):1695-1700.
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.
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.
Footnotes
Accepted for publication July 2, 1985.
Reprint requests to the Department of Clinical Ophthalmology, Institute of Ophthalmology, Moorfields Eye Hospital, City Road, London EC1V 2PD, England (Dr Bird).
CiteULike Connotea Del.icio.us Digg Reddit Technorati Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Neovascular Glaucoma From Advanced Coats Disease as the Initial Manifestation of Facioscapulohumeral Dystrophy in a 2-Year-Old Child
Shields et al.
Arch Ophthalmol 2007;125:840-842.
FULL TEXT
Eye and Kidney: From Clinical Findings to Genetic Explanations
Izzedine et al.
J. Am. Soc. Nephrol. 2003;14:516-529.
FULL TEXT
Cerebroretinal vasculopathy mimicking a brain tumor: A case of a rare hereditary syndrome
Weil et al.
Neurology 1999;53:629-629.
ABSTRACT
| FULL TEXT
Facioscapulohumeral Muscular Dystrophy in Early Childhood
Brouwer et al.
Arch Neurol 1994;51:387-394.
ABSTRACT
|