The genetic and molecular basis of congenital eye defects

Nat Rev Genet. 2003 Nov;4(11):876-88. doi: 10.1038/nrg1202.


The mature eye is a complex organ that develops through a highly organized process during embryogenesis. Alterations in its genetic programming can lead to severe disorders that become apparent at birth or shortly afterwards; for example, one-half of the cases of blindness in children have a genetic cause. This review outlines the genetic basis of eye development, as determined by mutation analysis in patients and in model organisms. A better understanding of how this intricate organ develops at the genetic and cellular level is central to our understanding of the pathologies that afflict it.

Publication types

  • Review

MeSH terms

  • Animals
  • Eye / anatomy & histology
  • Eye / embryology
  • Eye / metabolism*
  • Eye Abnormalities / etiology
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / metabolism
  • Humans
  • Mice
  • Mutation*
  • Nervous System Malformations / etiology
  • Nervous System Malformations / genetics*