Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

Am J Med Genet. 1994 Mar 1;50(1):32-8. doi: 10.1002/ajmg.1320500107.


The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium.

Publication types

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

MeSH terms

  • Diagnosis, Differential
  • Electroretinography
  • Hearing Loss, Sensorineural / congenital*
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Ophthalmoscopy
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics
  • Surveys and Questionnaires
  • Syndrome
  • Vestibular Diseases / diagnosis*
  • Vestibular Diseases / genetics
  • Vestibular Function Tests