A hereditary syndrome with retinopathy and ataxia or deafness in two consanguineous brothers.
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.
Bitoun
P
P
Hôpital Jean Verdier, Bondy, France.
Bandini
D
D
Rigaudiere
F
F
D000293:Adolescent; D001259:Ataxia / Q000235:genetics*; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome; D014786:Vision Disorders / Q000235:genetics*