The genetic and molecular basis of congenital eye defects.
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.
Graw
Jochen
J
GSF-National Research Center for Environment and Health, Institute of Developmental Genetics, D-85764 Neuherberg, Germany. graw@gsf.de
D000818:Animals; D005123:Eye / Q000033:anatomy & histology / Q000196:embryology / Q000378:metabolism*; D005124:Eye Abnormalities / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D051379:Mice; D009154:Mutation; D009421:Nervous System Malformations / Q000209:etiology / Q000235:genetics*