title: [Problem and assignment for distinguishing the Usher syndrome type].
abstract: Usher syndrome is an autosomal-recessive disorder that causes bilateral sensorineural hearing loss, retinitis pigmentosa (RP), and occasionally vestibular dysfunction. Usher syndrome types 1, 2, and 3 can be distinguished by differences in audiovestibular features. The objectives of this retrospective study were to evaluate 26 patients with Usher syndrome clinically. The 26 patients (male: 12 cases, female: 14 cases) with Usher syndrome, with a clinical diagnosis based on symptoms of bilateral sensorineural hearing loss and RP, had been registered from 13 hospitals as a multicenter study. We assessed the clinical history and performed audiovestibular and ophthalmologic examinations, and genetic testing. Eleven of the patients were classified as having Usher type 1 (38.5%), 6 with Usher type 2 (23.1%), and 9 with Usher type 3 (38.5%). However, many patients with atypical Usher type 1 (70%) and type 2 (83.3%) were found compared with Usher type 3 (10%). The conductive rate of vestibular examinations including the caloric test (50%) was low. There were many variations in the clinical symptoms in Usher syndrome patients, therefore the classification of Usher types 1, 2, and 3 has been complicated. We have proposed a flowchart for the diagnosis of Usher types 1, 2, and 3.
authors.affiliation: Department of Hearing Implant Sciences, Shinshu University, Matsumoto.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Iwasaki
authors.forename: Hidekane
authors.initials: H
authors.lastname: Yoshimura
authors.forename: Norito
authors.initials: N
authors.lastname: Takeichi
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Satou
authors.forename: Kotaro
authors.initials: K
authors.lastname: Ishikawa
authors.forename: Kimitaka
authors.initials: K
authors.lastname: Kaga
authors.forename: Kozou
authors.initials: K
authors.lastname: Kumakawa
authors.forename: Kyoko
authors.initials: K
authors.lastname: Nagai
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Furuya
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ikezono
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nakanishi
authors.forename: Yasu
authors.initials: Y
authors.lastname: Naitou
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Fukushima
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Tono
authors.forename: Takashi
authors.initials: T
authors.lastname: Kimitsuki
authors.forename: Shinya
authors.initials: S
authors.lastname: Nishio
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Takumi
authors.forename: Shinichi
authors.initials: S
authors.lastname: Usami
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics; D012189:Retrospective Studies; D052245:Usher Syndromes / Q000175:diagnosis* / Q000235:genetics