- 作者: Barkur S Shastry
- 作者服務機構: Department of Biological Sciences, Oakland University, Rochester, MI, USA
- 中文摘要: --
- 英文摘要:
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. - 中文關鍵字: --
- 英文關鍵字: --