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) |
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Pages (from-to) | 1445-1451 |
Number of pages | 7 |
Journal | Ophthalmology |
Volume | 92 |
Issue number | 10 |
DOIs | |
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