Mandal K, Drury J A, Clark D I
St Paul's Eye Unit, Department of Ophthalmology, Royal Liverpool University Hospital, Liverpool, Cheshire, UK.
J Perinatol. 2007 May;27(5):315-6. doi: 10.1038/sj.jp.7211674.
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.
Chromosomal analysis followed by vasculoendothelial growth factor (VEGF) analysis.
Unbalanced translocation 18p (monosomy) and 6p (trisomy). Overexpression of VEGF.
Overexpression of VEGF contributed to the unusual severity of ROP in this relatively large baby.
3期早产儿视网膜病变（ROP）通常发生在极小的婴儿中。一名孕30（2）周出生、出生体重2102克的婴儿被发现双侧患有3期ROP。该疾病在出生体重>2000克的儿童中异常严重，这促使进行进一步调查。目的是寻找ROP的任何遗传原因。
进行染色体分析，随后进行血管内皮生长因子（VEGF）分析。
18号染色体短臂（单体）和6号染色体短臂（三体）不平衡易位。VEGF过表达。
VEGF过表达导致了这名相对较大婴儿的ROP异常严重。
