Dominant Congenital Deafness and Progressive Optic Atrophy. Report of a Family Through Four Generations

Abstract

Six persons in four generations had congenital severe deafness and progressive mid-life visual failure. The 53-year-old proband and her 9-year-old son, studied in detail, had severe neural hearing loss and optic atrophy, much more severe in the mother. Her vision was 20/80 in each eye while her son's vision was normal. No cause for the hearing or visual loss was present except heredity.The proband's father, seen years ago at the age of 68, was congenitally deaf and had progressive visual loss with optic atrophy. By history, the proband's two maternal aunts and paternal grandmother had this same syndrome. The syndrome, transmitted by dominant mode, is unique and distinct from other familial syndromes of visual and hearing loss, including those described by Usher, Refsum, Alström, Cockayne, Norrie, Small, Sylvester, Rosenberg and Chutorian, and Tunbridge and Paley.