Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.
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.
Smith
R J
RJ
Department of Otolaryngology, University of Iowa, Iowa City 52242.
Berlin
C I
CI
Hejtmancik
J F
JF
Keats
B J
BJ
Kimberling
W J
WJ
Lewis
R A
RA
Möller
C G
CG
Pelias
M Z
MZ
Tranebjaerg
L
L
D003937:Diagnosis, Differential; D004596:Electroretinography; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009887:Ophthalmoscopy; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D011795:Surveys and Questionnaires; D013577:Syndrome; D015837:Vestibular Diseases / Q000175:diagnosis* / Q000235:genetics; D014724:Vestibular Function Tests