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

Research output: Contribution to journal › Article › peer-review

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 - 1985
Externally published	Yes

Keywords

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

ASJC Scopus subject areas

Ophthalmology

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10.1016/S0161-6420(85)33843-5

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title = "Norrie's Disease: A Study of Two Families",

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.",

keywords = "Norrie's disease, X-linked recessive inheritance, congenital progressive oculo-acoustico-cerebral degeneration, genetic counseling",

author = "Liberfarb, {Ruth M.} and Eavey, {Roland D.} and {De Long}, {G. Robert} and Albert, {Daniel M.} and Dieckert, {J. Paul} and Tatsuo Hirose",

note = "Funding Information: Supported in part by NIH Grant EY01917 (Dr. Albert).",

year = "1985",

doi = "10.1016/S0161-6420(85)33843-5",

language = "English (US)",

volume = "92",

pages = "1445--1451",

journal = "Ophthalmology",

issn = "0161-6420",

publisher = "Elsevier Inc.",

number = "10",

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TY - JOUR

T1 - Norrie's Disease

T2 - A Study of Two Families

AU - Liberfarb, Ruth M.

AU - Eavey, Roland D.

AU - De Long, G. Robert

AU - Albert, Daniel M.

AU - Dieckert, J. Paul

AU - Hirose, Tatsuo

N1 - Funding Information: Supported in part by NIH Grant EY01917 (Dr. Albert).

PY - 1985

Y1 - 1985

N2 - 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.

AB - 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.

KW - Norrie's disease

KW - X-linked recessive inheritance

KW - congenital progressive oculo-acoustico-cerebral degeneration

KW - genetic counseling

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JO - Ophthalmology

JF - Ophthalmology

SN - 0161-6420

IS - 10

ER -

Norrie's Disease: A Study of Two Families

Abstract

Keywords

ASJC Scopus subject areas

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