Yu Lei, Li Zhi-Kui, Gao Jin-Rong, Liu Jian-Rong, Xu Chang-Tai
Department of Ophthalmology, Xi'an Fourth Municipal People's Hospital, Xi'an 710004, Shaanxi Province, China.
Int J Ophthalmol. 2011;4(6):658-69. doi: 10.3980/j.issn.2222-3959.2011.06.17. Epub 2011 Dec 18.
Myopia is a significant public health problem and its prevalence is increasing over time and genetic factors in disease development are important. The prevalence and incidence of myopia within sampled population often varies with age, country, sex, race, ethnicity, occupation, environment, and other factors. Myopia growth is under a combination of genes and their products in time and space to complete the coordination role of the guidance. Myopia-related genes include about 70 genetic loci to which primary myopias have been mapped, although the number is constantly increasing and depends to some extent on definition. Of these, several are associated with additional abnormalities, mostly as part of developmental syndromes. These tend to result from mutations in genes encoding transcriptional activators, and most of these have been identified by sequencing candidate genes in patients with developmental anomalies. Currently, COL1A1 (collagen alpha-1 chain of type I), COL2A1 (collagen alpha-1 chain of type II), ACTC1 (actin, alpha, cardiac muscle 1), PAX6 (paired box gene 6) and NIPBL (nipped-B homolog), and so on have been mapped. Myopia is most commonly treated with spectacles or glasses. The most common surgical procedure performed to correct myopia is laser in situ keratomileusis (LASIK). This review of the recent advances on epidemiology, genetic locations and treatments of myopia are summarized.
近视是一个重大的公共卫生问题,其患病率随时间不断上升,且疾病发展中的遗传因素很重要。抽样人群中近视的患病率和发病率常因年龄、国家、性别、种族、民族、职业、环境及其他因素而有所不同。近视的发展是在基因及其产物在时间和空间上的组合作用下,完成指导的协调作用。与近视相关的基因包括约70个已定位原发性近视的基因座,尽管这个数字在不断增加,且在一定程度上取决于定义。其中,有几个与其他异常有关,大多是作为发育综合征的一部分。这些往往是由编码转录激活因子的基因突变引起的,其中大多数是通过对发育异常患者的候选基因进行测序而确定的。目前,已定位出COL1A1(I型胶原α-1链)、COL2A1(II型胶原α-1链)、ACTC1(心肌α-肌动蛋白1)、PAX6(配对盒基因6)和NIPBL(Nipped-B同源物)等基因。近视最常用眼镜进行治疗。矫正近视最常见的外科手术是准分子原位角膜磨镶术(LASIK)。本文综述了近视在流行病学、基因定位和治疗方面的最新进展。