Case Reports
doi: 10.1016/s0161-6420(85)33843-5.
Norrie's disease: a study of two families
- PMID: 4069610
- DOI: 10.1016/s0161-6420(85)33843-5
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Case Reports
Norrie's disease: a study of two families
Ophthalmology.
1985 Oct.
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.
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