Update on Usher syndrome.
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.
Saihan
Zubin
Z
UCL Institute of Ophthalmology & Moorfields Eye Hospital, London, UK. z.saihan@ucl.ac.uk
Webster
Andrew R
AR
Luxon
Linda
L
Bitner-Glindzicz
Maria
M
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
D016326:Extracellular Matrix Proteins; C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D020033:Protein Isoforms; D009218:Myosins