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Review

Nature Reviews Genetics 4, 876–888 (1 November 2003) | doi:10.1038/nrg1202

The genetic and molecular basis of congenital eye defects

Jochen Graw

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.