Department of Biological Sciences, Oakland University, Rochester, MI, USA.
J Biomed Sci. 2010 Aug 25;17(1):69. doi: 10.1186/1423-0127-17-69.
Retinopathy of prematurity (ROP) is a vascular vitreoretinopathy that affects infants with short gestational age and low birth-weight. The condition is a multifactorial disease and is clinically similar to familial exudative vitreoretinopathy (FEVR), which is a bilateral hereditary eye disorder affecting full-term infants. Both of them are characterized by the abnormal vessel growth in the vitreous that can lead to vitreoretinal traction, retinal detachment and other complications resulting in blindness. Despite the recent advances in diagnosis and treatment, ROP remains a major cause of childhood blindness in developed countries. The etiology of pathogenesis of advanced ROP is currently unknown. In the past, many causative factors such as length of time exposed to supplemental oxygen, excessive ambient light exposure and hypoxia have been suggested but evidence for these as independent risk factors in recent years is not compelling. It is not clear why ROP in a subset of infants with low birth-weight progresses to a severe stage (retinal detachment) despite timely intervention whereas in other infants with similar clinical characteristics ROP regresses spontaneously. Recent research with candidate gene approach, higher concordance rate in monozygotic twins and other clinical and experimental animal studies, suggest a strong genetic predisposition to ROP besides environmental factors such as prematurity. Three genes, which are involved in the Wnt signaling pathway, are mutated in both FEVR and in a small percentage of ROP disorder. However, none of the genetic factors identified thus far in ROP, account for a substantial number of patient population. Future studies involving genomics, bioinformatics and proteomics may provide a better understanding of the pathophysiology and management of ROP.
早产儿视网膜病变（ROP）是一种影响早产儿和低出生体重儿的血管性玻璃体视网膜病变。该病是一种多因素疾病，在临床上与家族渗出性玻璃体视网膜病变（FEVR）相似，FEVR 是一种影响足月婴儿的双侧遗传性眼病。它们的共同特征是玻璃体内异常血管生长，可导致玻璃体视网膜牵引、视网膜脱离等并发症，导致失明。尽管近年来在诊断和治疗方面取得了进展，但 ROP 仍然是发达国家儿童失明的主要原因。目前尚不清楚晚期 ROP 的发病机制的病因。过去，许多致病因素如补充氧气的时间、过度环境光暴露和缺氧等被提出，但近年来这些因素作为独立危险因素的证据并不令人信服。目前尚不清楚为什么尽管及时干预，低出生体重婴儿中的一部分 ROP 会进展到严重阶段（视网膜脱离），而其他具有类似临床特征的婴儿的 ROP 会自发消退。最近的候选基因方法研究、同卵双胞胎的更高一致性率以及其他临床和实验动物研究表明，除了早产等环境因素外，ROP 还存在强烈的遗传易感性。涉及 Wnt 信号通路的三个基因在 FEVR 和一小部分 ROP 疾病中发生突变。然而，迄今为止在 ROP 中确定的遗传因素没有一个能够解释大量患者人群。涉及基因组学、生物信息学和蛋白质组学的未来研究可能会更好地了解 ROP 的病理生理学和管理。
