Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity

Arch Ophthalmol. 1983 Sep;101(9):1367-74. doi: 10.1001/archopht.1983.01040020369005.


The conditions of 70 patients with Usher's syndrome were studied by ophthalmic and neuro-otologic examinations. Two distinct clinical and presumed genetic types were discernible on the basis of differences in hearing impairment, vestibular sensitivity, and, to a lesser extent, deterioration in retinal photoreceptor function. Distinguishing these two types has relevance for both diagnosis and genetic counseling of patients with Usher's syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Audiometry
  • Child
  • Electroretinography
  • Female
  • Hearing Disorders / diagnosis
  • Hearing Disorders / genetics*
  • Humans
  • Male
  • Middle Aged
  • Night Blindness / diagnosis
  • Night Blindness / genetics*
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Syndrome
  • Vestibular Function Tests
  • Visual Field Tests