Genetics of human cataract

A. Shiels, J. F. Hejtmancik

Research output: Contribution to journalReview articlepeer-review

114 Scopus citations


The pathogenesis of inherited cataracts of all kinds recapitulates the developmental and cell biology of the lens. Just as each novel mutation provides additional information about the structural or functional biology of the affected gene, each newly identified gene provides insight into the developmental and cellular biology of the lens. The set of genes currently known to be associated with cataract is far from complete, especially for age-related cataract, and there is much additional information to be discovered through further genetic studies.

Original languageEnglish
Pages (from-to)120-127
Number of pages8
JournalClinical Genetics
Issue number2
StatePublished - Aug 2013


  • Cataract
  • Genetics
  • Lens
  • Mutations


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