An unusual case of retinopathy of prematurity

J Perinatol. 2007 May;27(5):315-6. doi: 10.1038/sj.jp.7211674.

Abstract

Aims: Stage 3 retinopathy of prematurity (ROP) usually develops in the very small babies. An infant born at 30 (2) weeks' gestation and of birth weight 2102 g was found to have stage 3 ROP bilaterally. The unusual severity of the disease in a child of birth weight >2000 g prompted further investigation. The aim was to look for any genetic causes for ROP.

Methods: Chromosomal analysis followed by vasculoendothelial growth factor (VEGF) analysis.

Results: Unbalanced translocation 18p (monosomy) and 6p (trisomy). Overexpression of VEGF.

Conclusions: Overexpression of VEGF contributed to the unusual severity of ROP in this relatively large baby.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 18 / genetics*
  • Chromosomes, Human, Pair 6 / genetics*
  • Female
  • Follow-Up Studies
  • Gene Expression / physiology
  • Genotype
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics
  • Remission, Spontaneous
  • Retinopathy of Prematurity / diagnosis
  • Retinopathy of Prematurity / genetics*
  • Translocation, Genetic / genetics*
  • Trisomy
  • Vascular Endothelial Growth Factor A / genetics*

Substances

  • Vascular Endothelial Growth Factor A