title: Update on Usher syndrome.
abstract: OBJECTIVE
  The present review addresses the mechanisms, genetics and pathogenesis of Usher syndrome.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: UCL Institute of Ophthalmology & Moorfields Eye Hospital, London, UK. z.saihan@ucl.ac.uk
authors.forename: Zubin
authors.initials: Z
authors.lastname: Saihan
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Webster
authors.forename: Linda
authors.initials: L
authors.lastname: Luxon
authors.forename: Maria
authors.initials: M
authors.lastname: Bitner-Glindzicz
mesh_terms: D000483:Alleles; D000818:Animals; D030541:Databases, Genetic; D004195:Disease Models, Animal; D007758:Ear, Inner / Q000166:cytology / Q000473:pathology; D016326:Extracellular Matrix Proteins / Q000235:genetics / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006198:Hair Cells, Auditory / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D006801:Humans; D009154:Mutation; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D012160:Retina / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D052245:Usher Syndromes / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
chemical_list: D016326:Extracellular Matrix Proteins; C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D020033:Protein Isoforms; D009218:Myosins