An unusual otological manifestation of Usher's syndrome in four siblings

Clin Genet. 1983 Oct;24(4):273-9. doi: 10.1111/j.1399-0004.1983.tb00082.x.

Abstract

A family in which four out of ten siblings affected by Usher's syndrome, with progressive hearing loss, is described. Two of the siblings had hearing loss while of school age, but two others first exhibited otological symptoms in their thirties. One of the siblings had retinitis pigmentosa, diagnosed before the hearing impairment became evident. The family seems to exhibit type III Usher's syndrome with unusual manifestations.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age Factors
  • Child
  • Female
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Retinitis Pigmentosa / genetics*
  • Syndrome