Norrie's Disease: A Study of Two Families

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

Research output: Contribution to journalArticle

5 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Genetic Counseling
Deafness
Natural History
Intellectual Disability
Differential Diagnosis
Norrie disease
Therapeutics
Cognitive Dysfunction

Keywords

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

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Liberfarb, R. M., Eavey, R. D., De Long, G. R., Albert, D., 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

Norrie's Disease : A Study of Two Families. / Liberfarb, Ruth M.; Eavey, Roland D.; De Long, G. Robert; Albert, Daniel; Dieckert, J. Paul; Hirose, Tatsuo.

In: Ophthalmology, Vol. 92, No. 10, 01.01.1985, p. 1445-1451.

Research output: Contribution to journalArticle

Liberfarb, RM, Eavey, RD, De Long, GR, Albert, D, Dieckert, JP & Hirose, T 1985, 'Norrie's Disease: A Study of Two Families', Ophthalmology, vol. 92, no. 10, pp. 1445-1451. https://doi.org/10.1016/S0161-6420(85)33843-5
Liberfarb RM, Eavey RD, De Long GR, Albert D, Dieckert JP, Hirose T. Norrie's Disease: A Study of Two Families. Ophthalmology. 1985 Jan 1;92(10):1445-1451. https://doi.org/10.1016/S0161-6420(85)33843-5
Liberfarb, Ruth M. ; Eavey, Roland D. ; De Long, G. Robert ; Albert, Daniel ; Dieckert, J. Paul ; Hirose, Tatsuo. / Norrie's Disease : A Study of Two Families. In: Ophthalmology. 1985 ; Vol. 92, No. 10. pp. 1445-1451.
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