title: Molecular genetics of congenital nuclear cataract.
abstract: 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.
authors.affiliation: Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, Hunan 410013, China. Electronic address: hdeng008@yahoo.com.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
authors.affiliation: Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, Hunan 410013, China.
authors.forename: Lamei
authors.initials: L
authors.lastname: Yuan
mesh_terms: D002386:Cataract / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D005799:Genes, Dominant; D005808:Genes, Recessive; D050172:Genes, X-Linked; D056726:Genetic Association Studies; D056426:Genetic Loci; D006801:Humans; D009154:Mutation
keywords: Congenital nuclear cataract; Gene mutation; Genetics; Heterogeneity; Inheritance