Molecular genetic basis of inherited cataract and associated phenotypes
MA Reddy, PJ Francis, V Berry, SS Bhattacharya… - Survey of …, 2004 - Elsevier
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 …
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 …