Genetic susceptibility to retinopathy of prematurity: the evidence from clinical and experimental animal studies.
Despite advances in management and treatment, retinopathy of prematurity remains a major cause of childhood blindness. Evidence for a genetic basis for susceptibility to retinopathy of prematurity is examined, including the influences of sex, ethnicity, and ocular pigmentation. The role of polymorphisms is explored in the genes for vascular endothelial growth factor and insulin-like growth factor-1, and of mutations in the Norrie disease gene. Insights into the genetic basis of retinopathy of prematurity provided by the animal model of oxygen induced retinopathy are examined. Evidence for a genetic component for susceptibility to retinopathy of prematurity is strong, although the molecular identity of the gene or genes involved remains uncertain.
Holmström
Gerd
G
Department of Ophthalmology, Flinders Medical Centre, Bedford Park 5042 SA, Australia.
van Wijngaarden
Peter
P
Coster
Douglas J
DJ
Williams
Keryn A
KA
D000818:Animals; D004195:Disease Models, Animal; D005127:Eye Color; D005136:Eye Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D007334:Insulin-Like Growth Factor I / Q000235:genetics; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D010100:Oxygen; D011110:Polymorphism, Genetic; D012164:Retinal Diseases / Q000139:chemically induced; D012178:Retinopathy of Prematurity / Q000208:ethnology / Q000235:genetics*; D012737:Sex Factors; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics
D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins; D042461:Vascular Endothelial Growth Factor A; D007334:Insulin-Like Growth Factor I; D010100:Oxygen