Update on Usher syndrome

Curr Opin Neurol. 2009 Feb;22(1):19-27. doi: 10.1097/wco.0b013e3283218807.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alleles
  • Animals
  • Databases, Genetic
  • Disease Models, Animal
  • Ear, Inner / cytology
  • Ear, Inner / pathology
  • Extracellular Matrix Proteins / genetics
  • Extracellular Matrix Proteins / metabolism
  • Genetic Predisposition to Disease*
  • Hair Cells, Auditory / cytology
  • Hair Cells, Auditory / metabolism
  • Hair Cells, Auditory / pathology
  • Humans
  • Mutation
  • Myosin VIIa
  • Myosins / genetics
  • Myosins / metabolism
  • Phenotype
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • Retina / cytology
  • Retina / metabolism
  • Retina / pathology
  • Usher Syndromes* / genetics
  • Usher Syndromes* / pathology
  • Usher Syndromes* / physiopathology


  • Extracellular Matrix Proteins
  • MYO7A protein, human
  • Myosin VIIa
  • Protein Isoforms
  • Myosins