Endothelial nitric oxide synthase gene promoter polymorphism (T-786C) may be associated with advanced retinopathy of prematurity

摘要

Retinopathy of prematurity (ROP) is a well-known retinal vascular disease that affects infants with short ges-tational age and low birth weight. The disorder is characterized by an incomplete vascularization of the peripheral retina. In its advanced form, it results in severe visual impairment and blindness. The condition is clinically similar to familial exudative vitreoretinop-athy (FEVR), which is an inherited eye disorder that occurs in full-term infants. ROP is a multifactorial and lifetime disease. Recent genetic analyses suggest that ROP could be due to genetic influences in addition to environmental factors [1, 2]. Despite advances in the understanding and management of ROP, it remains a leading cause of blindness in children and there is no reliable method to predict which premature infant will develop retinal detachment and blindness. The ability to identify the high-risk infants would permit more aggressive monitoring and surgical intervention of these patients at the early stages of disease process.