Deng Hao, Yuan Lamei
Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, Hunan 410013, China.
Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, Hunan 410013, China.
Eur J Med Genet. 2014 Feb;57(2-3):113-22. doi: 10.1016/j.ejmg.2013.12.006. Epub 2013 Dec 30.
A cataract is defined as opacification of the normally transparent crystalline lens. Congenital cataract (CC) is a type of cataract that presents at birth or during early childhood. CC is one of the most common causes of visual impairment or blindness in children worldwide. Approximately 50% of all CC cases may have a genetic cause which is quite heterogeneous. CC occurs in a variety of morphologic configurations, including polar/subcapsular, nuclear, lamellar, sutural, cortical, membranous/capsular and complete. Nuclear cataract refers to the opacification limited to the embryonic and/or fetal nuclei of the lens. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains to be the most common cause. It can be inherited in one of the three patterns: autosomal dominant, autosomal recessive, or X-linked transmission. Autosomal dominant inheritance is the most frequent mode with high penetrance. There may be no obvious correlation between the genotype and phenotype of congenital nuclear cataract. Animal models have been established to study the pathogenesis of congenital nuclear cataract and to identify candidate genes. In this review, we highlight identified genetic mutations that account for congenital nuclear cataract. Our review may be helpful for genetic counseling and prenatal diagnosis.
白内障被定义为正常透明的晶状体发生混浊。先天性白内障（CC）是一种在出生时或幼儿期出现的白内障类型。CC是全球儿童视力损害或失明的最常见原因之一。所有CC病例中约50%可能有遗传原因，且遗传原因非常异质。CC有多种形态结构，包括极性/囊下、核性、板层状、缝状、皮质性、膜性/囊膜性和完全性。核性白内障是指晶状体混浊局限于胚胎核和/或胎儿核。虽然先天性核性白内障可由多种因素引起，但基因突变仍然是最常见的原因。它可以通过三种模式之一遗传：常染色体显性遗传、常染色体隐性遗传或X连锁遗传。常染色体显性遗传是最常见的模式，具有高外显率。先天性核性白内障的基因型和表型之间可能没有明显的相关性。已经建立了动物模型来研究先天性核性白内障的发病机制并鉴定候选基因。在这篇综述中，我们重点介绍了已确定的导致先天性核性白内障的基因突变。我们的综述可能有助于遗传咨询和产前诊断。
