Usher's syndrome, temporal bone pathology

Int J Pediatr Otorhinolaryngol. 1988 Oct;16(1):23-30. doi: 10.1016/0165-5876(88)90096-1.

Abstract

The histological findings in the right temporal bone of a 65-year-old deaf and blind man are presented. The subject suffered from the autosomal recessive Usher's syndrome, as did 2 of his 5 siblings. They are the offspring of a consanguineous marriage. This man died from an intra-abdominal hemorrhage. Within 3 h after death the temporal bones were donated for study and were processed for histopathological examination.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Blindness / genetics*
  • Blindness / pathology
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Disorders
  • Cochlear Nerve / pathology
  • Deafness / genetics*
  • Deafness / pathology
  • Genes, Recessive*
  • Humans
  • Male
  • Nerve Fibers / pathology
  • Organ of Corti / pathology
  • Pedigree
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology
  • Syndrome
  • Temporal Bone / pathology*