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Eur J Med Genet. 2014 Feb;57(2-3):113-22. doi: 10.1016/j.ejmg.2013.12.006. Epub 2013 Dec 30.

Molecular genetics of congenital nuclear cataract.

Author information

1
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.
2
Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, Hunan 410013, China.

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.

KEYWORDS:

Congenital nuclear cataract; Gene mutation; Genetics; Heterogeneity; Inheritance

PMID:
24384146
DOI:
10.1016/j.ejmg.2013.12.006
[Indexed for MEDLINE]

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