Review

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

The genetic and molecular basis of congenital eye defects

Jochen Graw1  About the author

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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.

Author affiliations

  1. GSF–National Research Center for Environment and Health, Institute of Developmental Genetics, D-85764 Neuherberg, Germany.
    Email: graw@gsf.de
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REFERENCE
Eye Development: Gene Control
Nature Encyclopaedia of Life Sciences
Visual System Development in Vertebrates
Nature Encyclopaedia of Life Sciences

RESEARCH
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
Nature Genetics Letters (01 Jun 1998)
Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12–q15 and refinement to a 4.4 Mb region
European Journal of Human Genetics Article (14 Apr 2004)

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