Liberfarb R M, Eavey R D, De Long G R, Albert D M, Dieckert J P, Hirose T
Ophthalmology. 1985 Oct;92(10):1445-51. doi: 10.1016/s0161-6420(85)33843-5.
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.
诺里病，即先天性进行性眼-耳-脑变性，是一种罕见的X连锁隐性综合征，表现为视网膜畸形、耳聋以及智力发育迟缓或衰退。本文描述了两个家族中五名患病男性（四名在世，一名已故）的疾病自然史。报告了来自每个家族的一名患者的组织病理学情况。还讨论了鉴别诊断、治疗及遗传咨询。
