Molecular genetic basis of inherited cataract and associated phenotypes

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• 作者：Reddy ; M. Ashwin ; Francis ; Peter J. ; Berry ; Vanita ; Bhattacharya ; Shomi S. ; Moore ; Anthony T.
• 关键词：congenital cataract ; inherited cataract ; genetics
• 刊名：Survey of Ophthalmology
• 出版年：2004
• 出版时间：May - June, 2004
• 年：2004
• 卷：49
• 期：3
• 页码：300-315
• 全文大小：446 K

文摘

Congenital cataract is a leading cause of visual disability in children. Inherited isolated (non-syndromic) cataract represents a significant proportion of cases and recently many causative genetic mutations have been identified. Inherited cataract is known to be clinically and genetically heterogeneous. Eleven clear-cut cataract phenotypes have been described. Cataract may be inherited as autosomal dominant, autosomal recessive, or X-linked recessive traits, and 12 loci and 15 specific genes associated with inherited isolated cataract have been identified to date; it is likely that more genes remain to be discovered.