title: A hereditary syndrome with retinopathy and ataxia or deafness in two consanguineous brothers.
abstract: Of two brothers born of Sephardic first cousin parents one presented with congenital neural deafness, nyctalopia, visual field loss, flat ERG, unintelligible speech and a shuffling gait, and the other with severe ataxia, severe decreased visual acuity, mild field loss, decreased ERG, dysarthric speech and high grade myopia. The diagnosis of Usher syndrome type 1 or 2 is discussed as well as the possibility that both brothers have different genetic disorders.
authors.affiliation: Hôpital Jean Verdier, Bondy, France.
authors.forename: P
authors.initials: P
authors.lastname: Bitoun
authors.forename: D
authors.initials: D
authors.lastname: Bandini
authors.forename: F
authors.initials: F
authors.lastname: Rigaudiere
mesh_terms: D000293:Adolescent; D001259:Ataxia / Q000235:genetics*; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome; D014786:Vision Disorders / Q000235:genetics*