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.

journal_name

Ophthalmology

journal_title

Ophthalmology

authors

Liberfarb RM,Eavey RD,De Long GR,Albert DM,Dieckert JP,Hirose T

doi

10.1016/s0161-6420(85)33843-5

subject

Has Abstract

pub_date

1985-10-01 00:00:00

pages

1445-51

issue

10

eissn

0161-6420

issn

1549-4713

pii

S0161-6420(85)33843-5

journal_volume

92

pub_type

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