近视遗传风险预测在高度近视防控中的应用进展

唐俊炜; 蓝贤娜; 方佳敏; 王茹芯; 陈欣; 李晴; 秦兴虎; 王立坤

doi:10.70693/cjst.v2i3.2036

Authors

唐俊炜北京林业大学
蓝贤娜北京林业大学
方佳敏北京林业大学
王茹芯北京林业大学
陈欣北京林业大学
李晴北京林业大学
秦兴虎北京林业大学
王立坤北京大学

DOI:

https://doi.org/10.70693/cjst.v2i3.2036

Keywords:

近视；高度近视；遗传风险预测；多基因风险评分；精准防控

Abstract

摘要：近视尤其高度近视是导致不可逆视觉损害的重要危险因素，其发生和发展受到遗传易感性、眼部发育状态和环境暴露的影响。近几年来，全基因组关联研究陆续发现了屈光误差、眼轴长度、近视和高度近视相关的遗传位点，促进了多基因风险评分和常见变异同稀有变异联合模型的发展。现有研究表明，遗传风险评分可以在群体方面识别近视或者高度近视的高风险个体，但是它的预测效果会受到样本来源、祖源背景、表型定义和年龄结构的影响，单一遗传模型还无法独立地对临床决策进行指导。把遗传评分同年龄、屈光状态、眼轴长度、父母近视史、户外活动、近距离用眼等因素结合起来，可能更适合用于儿童青少年近视的筛查、进展风险的分层、高度近视的长期管理。本文对近视遗传风险预测的主要方法、代表性研究及其在高度近视精准防控上的应用价值进行了综述。

References

[1] Holden BA, Fricke TR, Wilson DA, et al. Global prevalence of myopia and high myopia and temporal trends from 2000 through 2050[J]. Ophthalmology, 2016, 123(5): 1036-1042.

[2] Saw SM, Gazzard G, Shih-Yen EC, et al. Myopia and associated pathological complications[J]. Ophthalmic and Physiological Optics, 2005, 25(5): 381-391.

[3] 教育部, 国家卫生健康委员会, 国家体育总局, 等. 综合防控儿童青少年近视实施方案[EB/OL]. 2018[2026-05-15]. https://www.nhc.gov.cn/jkj/c100063/201808/0449e83bf5d040a7b257387db8cf24a7.shtml.

[4] 国家卫生健康委办公厅. 儿童青少年近视防控适宜技术指南（更新版）[EB/OL]. 2021[2026-05-15]. https://www.nhc.gov.cn/jkj/c100062/202110/a05ccaf5773a436486d2d79b59c0a5e9.shtml.

[5] Gifford KL, Richdale K, Kang P, et al. IMI—clinical management guidelines report[J]. Investigative Ophthalmology & Visual Science, 2019, 60(3): M184-M203.

[6] Enthoven CA, Tideman JWL, Polling JR, et al. Interaction between lifestyle and genetic susceptibility in myopia: the Generation R study[J]. European Journal of Epidemiology, 2019, 34(8): 777-784.

[7] Voogelaar M, Tedja MS, Guggenheim JA, et al. IMI—Myopia Genetics Report[J]. Investigative Ophthalmology & Visual Science, 2025, 66(13): 22.

[8] Ghorbani Mojarrad N, Plotnikov D, Williams C, et al. Association between polygenic risk score and risk of myopia[J]. JAMA Ophthalmology, 2020, 138(1): 7-13.

[9] Tedja MS, Wojciechowski R, Hysi PG, et al. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error[J]. Nature Genetics, 2018, 50(6): 834-848.

[10] Lanca C, Kassam I, Patasova K, et al. New polygenic risk score to predict high myopia in Singapore Chinese children[J]. Translational Vision Science & Technology, 2021, 10(8): 26.

[11] Yuan J, Qiu R, Wang Y, et al. Exome-wide genetic risk score to predict high myopia across multi-ancestry populations[J]. Communications Medicine, 2024, 4: 280.

[12] Kassam I, Foo LL, Lanca C, et al. The potential of current polygenic risk scores to predict high myopia and myopic macular degeneration in multiethnic Singapore adults[J]. Ophthalmology, 2022, 129(8): 890-902.

[13] Clark R, Lee SSY, Du R, et al. A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration[J]. EBioMedicine, 2023, 91: 104551.

[14] He HL, Liu YX, Song H, et al. Initiation of China Alliance of Research in High Myopia: protocol for an AI-based multimodal high myopia research biobank[J]. BMJ Open, 2023, 13(12): e076418.

[15] Lin HJ, Huang YT, Liao WL, et al. Developing a polygenic risk score with age and sex to identify high-risk myopia in Taiwan[J]. Biomedicines, 2024, 12(7): 1619.

[16] Flitcroft DI, He M, Jonas JB, et al. IMI—defining and classifying myopia: a proposed set of standards for clinical and epidemiologic studies[J]. Investigative Ophthalmology & Visual Science, 2019, 60(3): M20-M30.

[17] Wang Z, Wang P, Jiang B, et al. The efficacy and safety of 0.01% atropine alone or combined with orthokeratology for children with myopia: a meta-analysis[J]. PLoS One, 2023, 18(7): e0282286.

[18] Yam JC, Jiang Y, Tang SM, et al. Low-concentration atropine for myopia progression study: a randomized, double-blinded, placebo-controlled trial of 0.05%, 0.025%, and 0.01% atropine eye drops in myopia control[J]. Ophthalmology, 2019, 126(1): 113-124.

[19] Bullimore MA, Brennan NA. Myopia control: why each diopter matters[J]. Optometry and Vision Science, 2019, 96(6): 463-465.

[20] Ohno-Matsui K, Wu PC, Yamashiro K, et al. IMI Pathologic Myopia[J]. Investigative Ophthalmology & Visual Science, 2021, 62(5): 5.