Norrie's Disease: A Study of Two Families

Ruth M. Liberfarb, Roland D. Eavey, G. Robert De Long, Daniel M. Albert, J. Paul Dieckert, Tatsuo Hirose

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Norrie's disease, or congenital progressive oculo-acoustico-cerebral degeneration, is a rare X-linked recessive syndrome of retinal malformation, deafness, and mental retardation and/or deterioration. The natural history of the disorder in two families with five affected males, four living and one deceased, is described. The histopathology of two patients, one from each family, is reported. Differential diagnosis, treatment, and genetic counseling are discussed.

Original languageEnglish (US)
Pages (from-to)1445-1451
Number of pages7
JournalOphthalmology
Volume92
Issue number10
DOIs
StatePublished - Jan 1 1985

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Keywords

  • Norrie's disease
  • X-linked recessive inheritance
  • congenital progressive oculo-acoustico-cerebral degeneration
  • genetic counseling

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Liberfarb, R. M., Eavey, R. D., De Long, G. R., Albert, D. M., Dieckert, J. P., & Hirose, T. (1985). Norrie's Disease: A Study of Two Families. Ophthalmology, 92(10), 1445-1451. https://doi.org/10.1016/S0161-6420(85)33843-5