Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome
F. E. O'Donnell Jr and H. R. Pappas
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 expressivitly
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.
