期刊
CURRENT OPINION IN NEUROLOGY
卷 22, 期 1, 页码 19-27出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/WCO.0b013e3283218807
关键词
inner ear; retina; Usher syndrome
资金
- British Rotinitis Pigmentosa Society
- Big Lottery
Purpose of review The present review addresses the mechanisms, genetics and pathogenesis of Usher syndrome. Recent findings Recent molecular findings have provided more information regarding the pathogenesis of this disorder and the wide phenotypic variation in both audiovestibular and/or visual systems. Evidence has begun to emerge supporting a theory of a protein interactome involving the Usher proteins in both the inner ear and the retina. This interactome appears to be important for hair cell development in the ear but its role in the retina remains unclear. Summary Understanding clinical disease progression and molecular pathways is important in the progress towards developing gene therapy to prevent blindness due to Usher syndrome as well as delivering prognostic information to affected individuals.
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