| Literature DB >> 4069610 |
R M Liberfarb, R D Eavey, G R De Long, D M Albert, J P Dieckert, T Hirose.
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.Entities:
Mesh：
Year: 1985 PMID： 4069610 DOI： 10.1016/s0161-6420(85)33843-5
Source DB: PubMed Journal: Ophthalmology ISSN： 0161-6420 Impact factor: 12.079