The genetic and molecular basis of congenital eye defects
- 1 November 2003
- journal article
- review article
- Published by Springer Nature in Nature Reviews Genetics
- Vol. 4 (11) , 876-888
- https://doi.org/10.1038/nrg1202
Abstract
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.Keywords
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