Harendra de Silva D G, de Silva D B
Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka.
Br J Ophthalmol. 1988 Jan;72(1):62-4. doi: 10.1136/bjo.72.1.62.
Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family with typical features of Norrie's disease.
诺里病是一种先天性进行性眼-耳-脑退行性疾病，是一种X连锁隐性遗传病。以前被描述为先天性眼球萎缩，它与视网膜双侧假肿瘤、晶状体和角膜混浊以及眼球痨有关。一些患者会出现精神功能和听力的进行性衰退。我们报告了一个具有诺里病典型特征的斯里兰卡家族。
