An unusual case of retinopathy of prematurity.
OBJECTIVE
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.
Mandal
K
K
St Paul's Eye Unit, Department of Ophthalmology, Royal Liverpool University Hospital, Liverpool, Cheshire, UK. kmandal@doctors.org.uk
Drury
J A
JA
Clark
D I
DI
D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D015870:Gene Expression / Q000502:physiology; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D012075:Remission, Spontaneous; D012178:Retinopathy of Prematurity / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*
D042461:Vascular Endothelial Growth Factor A