Ohba N, Isashiki Y
Department of Ophthalmology, Kagoshima University Faculty of Medicine.
Nippon Ganka Gakkai Zasshi. 1996 Feb;100(2):101-10.
Norrie disease is a rare genetic disorder characterized by bilateral congenital blindness. The salient clinical feature early in life is a dense, white, vascularized mass behind each lens due to maldeveloped retina. Cataracts and corneal opacities are developed in young childhood, followed by bulbar atrophies. Histopathologic examination suggests primary vitreoretinal dysplasia because of developmental arrest of the retina in the middle embryonic stage. Occasional patients show psychomotor retardation or progressive hearing loss as part of a multisystem disorder. The disease is transmitted by an X-linked recessive form of inheritance, with sons of female carriers having a 50% risk for expressing the disease. In recent years, a candidate gene for Norrie disease has been isolated and characterized, which encompasses 27 kilobases and consists of three exons interspersed by two introns. Microdeletions and a variety of point mutations in the disease gene were identified in Norrie patients, although the genotype-phenotype correlation remains to be defined, and molecular diagnosis is now available for Norrie disease. The encoded protein has homology to a protein domain involving mucins and TGF beta, which may play an essential role in targeting of retinal/neural connections.
诺里病是一种罕见的遗传性疾病，其特征为双侧先天性失明。生命早期的显著临床特征是由于视网膜发育不良，每个晶状体后面出现致密、白色、血管化的肿块。儿童早期会出现白内障和角膜混浊，随后是眼球萎缩。组织病理学检查提示原发性玻璃体视网膜发育异常，原因是视网膜在胚胎中期发育停滞。部分患者会出现精神运动发育迟缓或进行性听力丧失，作为多系统疾病的一部分。该疾病通过X连锁隐性遗传方式传播，女性携带者的儿子有50%的患病风险。近年来，已分离并鉴定出诺里病的一个候选基因，它包含27千碱基，由三个外显子和两个内含子间隔组成。在诺里病患者中发现了疾病基因的微缺失和多种点突变，尽管基因型与表型的相关性仍有待确定，但目前诺里病已有分子诊断方法。编码的蛋白质与涉及粘蛋白和转化生长因子β的蛋白质结构域具有同源性，这可能在视网膜/神经连接的靶向中起重要作用。
