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Autosomal Dominant Foveal Hypoplasia and Presenile CataractsA New Syndrome
Francis E. O'Donnell, Jr, MD;
Harry R. Pappas, MD
Arch Ophthalmol. 1982;100(2):279-281.
Abstract
An autosomal dominant syndrome of mild foveal hypoplasia (visual acuity, 20/50), congenital nystagmus, corneal pannus, and presenile cataracts was seen in four patients from a single family. There is variable expressivity of this trait. The differential diagnosis includes aniridia, ocular albinism, and isolated foveal hypoplasia. Cataract surgery is indicated for affected patients with substantial visual impairment.
Author Affiliations
From the Wilmer Ophthalmological Institute of The Johns Hopkins Medical Institutions, Baltimore. Dr O'Donnell is now with the Bethesda Eye Institute and the Department of Ophthalmology, St Louis University School of Medicine, St Louis.
Footnotes
Accepted for publication Jan 28, 1981.
Reprint requests to the Bethesda Eye Institute, 3655 Vista Ave, St Louis, MO 63110 (Dr O'Donnell).
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