Document Detail


[Problem and assignment for distinguishing the Usher syndrome type].
MedLine Citation:
PMID:  23214047     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
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:
Satoshi Iwasaki; Hidekane Yoshimura; Norito Takeichi; Hiroaki Satou; Kotaro Ishikawa; Kimitaka Kaga; Kozou Kumakawa; Kyoko Nagai; Nobuhiko Furuya; Tetsuo Ikezono; Hiroshi Nakanishi; Yasu Naitou; Kunihiro Fukushima; Tetsuya Tono; Takashi Kimitsuki; Shinya Nishio; Yutaka Takumi; Shinichi Usami
Publication Detail:
Type:  English Abstract; Journal Article    
Journal Detail:
Title:  Nihon Jibiinkoka Gakkai kaiho     Volume:  115     ISSN:  0030-6622     ISO Abbreviation:  Nippon Jibiinkoka Gakkai Kaiho     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-12-07     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7505728     Medline TA:  Nihon Jibiinkoka Gakkai Kaiho     Country:  Japan    
Other Details:
Languages:  jpn     Pagination:  894-901     Citation Subset:  IM    
Affiliation:
Department of Hearing Implant Sciences, Shinshu University, Matsumoto.
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