近视发生和发展的遗传学研究进展

Genetic evidence for the onset and development of myopia

近视是指人眼在放松调节状态下的等效球镜低于或等于-0.50 D, 或者眼轴长度超过24 mm的屈光不正性眼病。随着患者近视病情的进展, 眼部出现并发症的概率逐渐上升, 如出现视网膜脱离、视网膜新生血管和黄斑变性等病理改变。近年来, 近视的发病率逐年提高, 已成为威胁人类视力健康的第二大致盲眼病。流行病学研究发现近视疾病的分布呈现出明显的种族差异和家族聚集性特点, 表明疾病的发生发展与遗传因素相关。此外, 大量研究者在患者样本中识别出许多近视的致病位点和候选基因, 揭示了近视发生发展的遗传学分子机制。遗传因素不但可作为近视致病的独立因素, 还可与环境因素发生相互作用, 共同调控疾病的进展。本文就近视遗传致病因素的流行病学证据、近视发生发展的遗传因素、环境与遗传因素的相互作用对近视发生和发展的影响展开综述, 为近视的防控提供新的思路。

Myopia is a common refractive eye disease,which is an ametropia in which the spherical equivalent of the eye is less than or equal to-0.50 D,or the axial length of the eye is more than 24 mm.As myopia progresses,the likelihood of ocular complications gradually increases,including retinal detachment,retinal neovascularization,macular degeneration,and other pathological changes.In recent years,the annual incidence of myopia has increased significantly and has become the second leading cause of blindness worldwide.Epidemiologic studies have shown that the distribution of myopia presents obvious ethnic differences and familial clustering characteristics,indicating that genetic factors play an important role in the onset and development of myopia.In addition,researchers have identified many pathogenic variants and candidate genes for myopia in patient samples,revealing the genetic and molecular mechanisms of myopia development.The genetic factor not only can serve as the independent factor that affects myopia development but also can interact with the environmental factor and together control the progression of myopia.This article reviewed the epidemiological research evidence on the heritability of myopia,the genetic factors of myopia development,and the interaction between genetic and environmental factors to provide new ideas for the prevention,control and treatment of myopia.