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Genetic susceptibility to retinopathy of prematurity: the evidence from clinical and experimental animal studies
  1. Gerd Holmström1,2,
  2. Peter van Wijngaarden2,
  3. Douglas J Coster,
  4. Keryn A Williams2
  1. 1
    Department of Ophthalmology, Uppsala University, Uppsala, Sweden
  2. 2
    Department of Ophthalmology, Flinders University of South Australia, Adelaide, Australia
  1. Professor K A Williams, Department of Ophthalmology, Flinders Medical Centre, Bedford Park 5042 SA, Australia; keryn.williams{at}


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.

  • retinopathy of prematurity
  • oxygen induced retinopathy
  • angiogenesis
  • genetic risk factors
  • molecular genetics

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  • Competing interests: None declared.

  • Abbreviations:

    Cryotherapy for Retinopathy of Prematurity Cooperative Group


    Early Treatment for Retinopathy of Prematurity Cooperative Group

    FEVR familial exudative vitreoretinopathy


    insulin-like growth factor1


    oxygen induced retinopathy


    retinopathy of prematurity


    vascular endothelial growth factor

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