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February 1982

Autosomal Dominant Foveal Hypoplasia and Presenile Cataracts: A New Syndrome

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.

Arch Ophthalmol. 1982;100(2):279-281. doi:10.1001/archopht.1982.01030030281009

• 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.

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