| [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. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Physicians are building their own ACOs.
Next Document: [Nutritional surveillance in head and neck cancer patients during radiotherapy--the difference betwe...