Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

R J Smith; C I Berlin; J F Hejtmancik; B J Keats; W J Kimberling; R A Lewis; C G Möller; M Z Pelias; L Tranebjaerg

doi:10.1002/ajmg.1320500107

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.

Authors

R J Smith¹, C I Berlin, J F Hejtmancik, B J Keats, W J Kimberling, R A Lewis, C G Möller, M Z Pelias, L Tranebjaerg

Affiliation

¹ Department of Otolaryngology, University of Iowa, Iowa City 52242.

PMID: 8160750
DOI: 10.1002/ajmg.1320500107

Abstract

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