Clinical diagnosis of the Usher syndromes

R. J.H. Smith, C. I. Berlin, J. F. Hejtmancik, B. J.B. Keats, W. J. Kimberling, R. A. Lewis, C. G. Moller, M. Z. Pelias, L. Tranebjaerg

Research output: Contribution to journalArticlepeer-review

285 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)32-38
Number of pages7
JournalAmerican journal of medical genetics
Issue number1
StatePublished - 1994
Externally publishedYes


  • Usher syndrome type I
  • Usher syndrome type II

ASJC Scopus subject areas

  • Genetics(clinical)


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