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Medical Genetics in the Clinical Practice of ORL

Editor(s): Alford R.L. (Houston, Tex.) 
Sutton V.R. (Houston, Tex.) 
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Usher Syndrome: Hearing Loss with Vision Loss

Friedman T.B.a · Schultz J.M.a · Ahmed Z.M.b · Tsilou E.T.c · Brewer C.C.d
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 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)

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.

 

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