title: Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.
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.
authors.affiliation: Department of Otolaryngology, University of Iowa, Iowa City 52242.
authors.forename: R J
authors.initials: RJ
authors.lastname: Smith
authors.forename: C I
authors.initials: CI
authors.lastname: Berlin
authors.forename: J F
authors.initials: JF
authors.lastname: Hejtmancik
authors.forename: B J
authors.initials: BJ
authors.lastname: Keats
authors.forename: W J
authors.initials: WJ
authors.lastname: Kimberling
authors.forename: R A
authors.initials: RA
authors.lastname: Lewis
authors.forename: C G
authors.initials: CG
authors.lastname: Möller
authors.forename: M Z
authors.initials: MZ
authors.lastname: Pelias
authors.forename: L
authors.initials: L
authors.lastname: Tranebjaerg
mesh_terms: 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