Cover

Medical Genetics in the Clinical Practice of ORL

Editor(s): Alford R.L. (Houston, Tex.) 
Sutton V.R. (Houston, Tex.) 
Table of Contents
Vol. 70, 2011
Section title: Paper
Alford RL, Sutton VR (eds): Medical Genetics in the Clinical Practice of ORL. Adv Otorhinolaryngol. Basel, Karger, 2011, vol 70, pp 56–65
(DOI:10.1159/000322473)

Usher Syndrome: Hearing Loss with Vision Loss

Friedman T.B. · Schultz J.M. · Ahmed Z.M. · Tsilou E.T. · Brewer C.C.
aSection on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Rockville, Md., bDivision of Pediatric Ophthalmology, Cincinnati Children’s Hospital Research Foundation, and Department of Ophthalmology, University of Cincinnati, Cincinnati, Ohio, cOphthalmic Genetics and Visual Function Branch, National Eye Institute, and dOtolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 2/24/2011
Cover Date: 2011

Number of Print Pages: 10
Number of Figures: 1
Number of Tables: 2

ISBN: 978-3-8055-9668-8 (Print)
eISBN: 978-3-8055-9669-5 (Online)

Abstract

Usher syndrome (USH) is a clinically heterogeneous condition characterized by sensorineural hearing loss, progressive retinal degeneration, and vestibular dysfunction. A minimum test battery is described as well as additional clinical evaluations that would provide comprehensive testing of hearing, vestibular function, and visual function in USH patients. USH is also genetically heterogeneous. At least nine genes have been identified with mutations that can cause USH. The proteins encoded by these genes are thought to interact with one another to form a network in the sensory cells of the inner ear and retina.


  

Author Contacts

Thomas B. Friedman, PhD, 5 Research Court, Rm 2A-19, NIDCD, NIH, Rockville, MD 20850 (USA), Tel. +1 301 496 7882, Fax +1 301 402 7580, E-Mail friedman@nidcd.nih.gov

  

Article Information

Published online: February 24, 2011
Number of Print Pages : 10

  

Publication Details

Book Serie: Advances in Oto-Rhino-Laryngology, Vol. 70, Year 2011

Editor(s): Arnold, W. (Munich); Randolph, G. (Boston, Mass.)
ISSN: 0065-3071 (Print), eISSN: 1662-2847 (Online)

For additional information:
http://content.karger.com/ProdukteDB/produkte.asp?issn=0065-3071

Book Title: Medical Genetics in the Clinical Practice of ORL

Editor(s): Alford RL, Sutton VR (eds)

For additional information:
http://content.karger.com/ProdukteDB/produkte.asp?issn=0065-3071&volume=70


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 2/24/2011
Cover Date: 2011

Number of Print Pages: 10
Number of Figures: 1
Number of Tables: 2

ISBN: 978-3-8055-9668-8 (Print)
eISBN: 978-3-8055-9669-5 (Online)


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