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Logo of brjopthalBritish Journal of OphthalmologyCurrent TOCInstructions for authors
Br J Ophthalmol. 2007; 91(12): 1704–1708.
PMCID: PMC2095497
Genetic susceptibility to retinopathy of prematurity: the evidence from clinical and experimental animal studies
Gerd Holmström, Peter van Wijngaarden, Douglas J Coster, and Keryn A Williams
Gerd Holmström, Department of Ophthalmology, Uppsala University, Uppsala, Sweden
Gerd Holmström, Peter van Wijngaarden, Douglas J Coster, Keryn A Williams, Department of Ophthalmology, Flinders University of South Australia, Adelaide, Australia
Correspondence to: Professor K A Williams
Department of Ophthalmology, Flinders Medical Centre, Bedford Park 5042 SA, Australia;
Accepted June 2, 2007.
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.
Keywords: retinopathy of prematurity, oxygen induced retinopathy, angiogenesis, genetic risk factors, molecular genetics
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