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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}flinders.edu.au

Abstract

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.

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Footnotes

  • Competing interests: None declared.

  • Abbreviations:
    CRYO-ROP

    Cryotherapy for Retinopathy of Prematurity Cooperative Group

    ETROP

    Early Treatment for Retinopathy of Prematurity Cooperative Group

    FEVR familial exudative vitreoretinopathy

    IGF1

    insulin-like growth factor1

    OIR

    oxygen induced retinopathy

    ROP

    retinopathy of prematurity

    VEGF

    vascular endothelial growth factor

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