title: Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome.
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 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.
mesh_terms: D000328:Adult; D000368:Aged; D002386:Cataract / Q000150:complications* / Q000235:genetics; D003316:Corneal Diseases / Q000150:complications* / Q000235:genetics; D005260:Female; D005584:Fovea Centralis / Q000473:pathology*; D005799:Genes, Dominant; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008268:Macular Degeneration / Q000150:complications* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D013577:Syndrome