K Mandal1, J A Drury, D I Clark. 1. St Paul's Eye Unit, Department of Ophthalmology, Royal Liverpool University Hospital, Liverpool, Cheshire, UK. kmandal@doctors.org.uk
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.
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.