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

doi:10.1016/S0161-6420(85)33843-5

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

Ophthalmology

Research output: Contribution to journal › Article

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 language	English (US)
Pages (from-to)	1445-1451
Number of pages	7
Journal	Ophthalmology
Volume	92
Issue number	10
DOIs	https://doi.org/10.1016/S0161-6420(85)33843-5
State	Published - 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

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10.1016/S0161-6420(85)33843-5