Histopathology of the ears, eyes, and brain in norrie's disease (oculoacousticocerebral degeneration)

Joseph B. Nadol, Roland D. Eavey, Ruth M. Liberfarb, Saumil N. Merchant, Roger Williams, David Climenhager, Daniel M. Albert

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Norrie's disease is an x-linked recessive disorder characterized by progressive oculoacousticocerebral degeneration. The light and electron microscopic changes in the temporal bones, eyes, and brain of an affected 77-year-old man who suffered from bilateral profound sensorineural hearing loss, blindness, and mental retardation are described. The inner ears showed marked atrophy of the stria vascularis, severe degeneration of hair cells and cochlear neurons, and connective tissue proliferation in the spiral ganglion, osseous spiral lamina, and walls of the membranous vestibular labyrinth. The eyes showed detached retinae, dense proliferation of fibrillary glial cells in the retina and vitreous, severe atrophy of the optic nerves, and degenerative hyalinization of blood vessels. This case is the first published report of the histopathology of the inner ear in Norrie's disease.

Original languageEnglish (US)
Pages (from-to)112-124
Number of pages13
JournalAmerican Journal of Otolaryngology--Head and Neck Medicine and Surgery
Issue number2
StatePublished - 1990
Externally publishedYes


  • Norrie's disease
  • blindness
  • hearing loss
  • mental retardation
  • ocular pathology
  • temporal bone histopathology

ASJC Scopus subject areas

  • Otorhinolaryngology


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