Norrie’s disease: a study of two families.

Daniel Albert // Publications // Oct 01 1985

PubMed ID: 4069610

Author(s): Liberfarb RM, Eavey RD, De Long GR, Albert DM, Dieckert JP, Hirose T. Norrie’s disease: a study of two families. Ophthalmology. 1985 Oct;92(10):1445-51. PMID 4069610

Journal: Ophthalmology, Volume 92, Issue 10, Oct 1985

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.