Molecular genetic basis of inherited cataract and associated phenotypes

Surv Ophthalmol. 2004 May-Jun;49(3):300-15. doi: 10.1016/j.survophthal.2004.02.013.


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. The identification of remaining genes will not only improve our understanding of the mechanism of cataract formation but will shed new light on the developmental biology and biochemistry of the lens. Furthermore, it is possible that some of these genes will be implicated in the more common age related cataract, which also has a genetic component to its etiology.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cataract / congenital*
  • Cataract / genetics*
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Counseling
  • Humans
  • Molecular Biology
  • Phenotype