Congenital cataracts and their molecular genetics.
Cataract can be defined as any opacity of the crystalline lens. Congenital cataract is particularly serious because it has the potential for inhibiting visual development, resulting in permanent blindness. Inherited cataracts represent a major contribution to congenital cataracts, especially in developed countries. While cataract represents a common end stage of mutations in a potentially large number of genes acting through varied mechanisms in practice most inherited cataracts have been associated with a subgroup of genes encoding proteins of particular importance for the maintenance of lens transparency and homeostasis. The increasing availability of more detailed information about these proteins and their functions and is making it possible to understand the pathophysiology of cataracts and the biology of the lens in general.
MOGS/OGVFB/NEI/NIH, Building 10, Bethesda, MD 20892, USA. f3h@helix.nih.gov
J Fielding
JF
Hejtmancik
D000818:Animals; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002874:Chromosome Mapping; D002877:Chromosomes, Human; D017630:Connexins / Q000235:genetics; D003315:Cornea / Q000502:physiology; D003459:Crystallins / Q000235:genetics; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D007381:Intermediate Filament Proteins / Q000235:genetics; D007908:Lens, Crystalline / Q000502:physiology; D008565:Membrane Proteins / Q000235:genetics; D008954:Models, Biological; D009154:Mutation / Q000502:physiology; D012029:Refraction, Ocular / Q000502:physiology; D014157:Transcription Factors / Q000235:genetics
D017630:Connexins; D003459:Crystallins; D036341:Intercellular Signaling Peptides and Proteins; D007381:Intermediate Filament Proteins; D008565:Membrane Proteins; D014157:Transcription Factors