A hereditary syndrome with retinopathy and ataxia or deafness in two consanguineous brothers

Ophthalmic Paediatr Genet. 1991 Sep;12(3):149-52. doi: 10.3109/13816819109029397.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Ataxia / genetics*
  • Consanguinity
  • Deafness / genetics*
  • Humans
  • Male
  • Syndrome
  • Vision Disorders / genetics*