Shastry B S
Eye Research Institute, Oakland University, Rochester, Michigan 48309-4480, USA.
Biochem Biophys Res Commun. 1998 May 8;246(1):35-8. doi: 10.1006/bbrc.1998.8565.
Disorders such as Norrie disease, X-linked familial exudative vitreoretinopathy, retinopathy of prematurity and X-linked primary vitreoretinal dysplasia have very similar clinical manifestations. They exhibit retinal fold, retinal detachment, retinal traction and the formation of retrolental fibrovascular membrane. In order to identify carriers for these disorders and provide precise genetic counseling of the relatives, a molecular genetic analysis will be helpful. This report describes the results of Norrie disease analysis in simplex cases of exudative vitreoretinopathy. the identification of a recurrent mutation in the Norrie disease gene in a simplex case of exudative vitreoretinopathy further strengthens the notion that Norrie disease and exudative vitreoretinopathy are allelic disorders.
诸如诺里病、X连锁家族性渗出性玻璃体视网膜病变、早产儿视网膜病变和X连锁原发性玻璃体视网膜发育异常等疾病具有非常相似的临床表现。它们表现为视网膜皱褶、视网膜脱离、视网膜牵引以及晶状体后纤维血管膜的形成。为了识别这些疾病的携带者并为亲属提供精确的遗传咨询，分子遗传学分析将有所帮助。本报告描述了渗出性玻璃体视网膜病变单发病例中诺里病分析的结果。在一例渗出性玻璃体视网膜病变单发病例中诺里病基因复发性突变的鉴定进一步强化了诺里病和渗出性玻璃体视网膜病变是等位基因疾病的观念。
