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ENGLISH ABSTRACT
病理性近视并发症遗传学研究进展
陆强
竺向佳 [综述]
卢奕 [综述]
作者及单位信息
·
DOI： 10.3760/cma.j.cn115989-20210429-00288
Advances in genetic research on complications of pathological myopia
Lu Qiang
Zhu Xiangjia
Lu Yi
Authors Info & Affiliations
Lu Qiang
Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Key Laboratory of Myopia and Related Eye Disease, NHC, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China
Zhu Xiangjia
Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Key Laboratory of Myopia and Related Eye Disease, NHC, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China
Lu Yi
Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Key Laboratory of Myopia and Related Eye Disease, NHC, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China
·
DOI： 10.3760/cma.j.cn115989-20210429-00288
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摘要

病理性近视以眼轴过度增长为特征，并伴有眼球后极部结构改变，在临床上应区别于高度近视。相比高度近视，病理性近视人群往往有更大概率并发白内障、青光眼及一系列视网膜脉络膜病变。迄今为止，大量的遗传学研究结果通过全基因组关联分析、家系研究及病例报道等诸多方式为我们提供了与高度近视及诸多眼部并发症发生和发展相关的基因位点，其中部分基因在眼轴的过度增长及相关并发症中扮演着重要角色。病理性近视在临床表现及预后方面均有别于单纯的高度近视，具有特征性的遗传背景，本研究基于已知的高度近视致病基因，对病理性近视并发症发生和发展的相关基因进行了归纳整理：在病理性近视并发早发快速进展的核性白内障人群中存在胶原、抗氧化、眼底病相关基因表达的改变；在病理性近视并发开角型青光眼患者中则存在升压基因及胶原相关基因的变异；此外，胶原和生长因子相关基因变异与诸多病理性近视并发眼底病变有关。对病理性近视并发症遗传背景的进一步了解，有助于为日后探讨病理性近视特征性遗传学改变奠定基础，对病理性近视的临床诊断及并发症的防治提供新的手段。

病理性近视;并发症;基因;白内障;开角型青光眼;眼底病变;近视性脉络膜新生血管
ABSTRACT

Pathological myopia is characterized by excessive axial elongation with structural changes at the posterior pole of the eye and should be distinguished from high myopia in clinical practice.People with pathological myopia are more likely to develop cataracts, glaucoma, and a range of retinal and choroidal pathologies than those with high myopia.To date, a large number of genetic studies have provided us with gene loci associated with the onset and development of high myopia and many ocular complications through genome-wide association analysis, family studies, and case reports.Among these genes, some play essential roles in both axial elongation and related complications.Considering that pathologic myopia is different from high myopia in the aspects of clinical manifestation and prognosis, and has a characteristic genetic background, this article attempts to summarize the genes associated with pathological myopia-related complications.There are changes in the expression of collagen, antioxidation, and fundus disease-related genes in people with pathological myopia complicated with early-onset and rapidly progressing nuclear cataracts.There are variations in the hypertension and collagen-related genes in patients with pathological myopia complicated with open-angle glaucoma.In addition, gene variations related to collagen and growth factors are associated with many pathological myopia complicated with fundus diseases.Further understanding of the genetic background of the complications of pathological myopia will help lay the foundation for future research on the characteristic genetic changes of the disease to provide new tools for the clinical diagnosis of it and the prevention and treatment of complications.

Myopia, degenerative;Complications;Genes;Cataract;Open-angle glaucoma;Retinopathy;Myopic choroidal neovascularization
Lu Yi, Email: mocdef.3ab61tneeiyul
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引用本文

陆强,竺向佳,卢奕. 病理性近视并发症遗传学研究进展[J]. 中华实验眼科杂志,2024,42(10)：952-957.

DOI:10.3760/cma.j.cn115989-20210429-00288

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病理性近视是以过度的眼轴增长并伴有眼球后极部结构改变(包括后巩膜葡萄肿、近视性黄斑病变及高度近视相关的视神经病变)为特征的眼部疾病 [ 1 ]。病理性近视在临床上应区别于高度近视，后者为等效球镜度数超过－6.0 D或眼轴长度超过26 mm，伴或不伴有其他眼部病变的近视性眼部改变。据报道，在亚洲人群中，病理性近视发病率为0.9%～3.1% [ 2 ]，高度近视发病率为2.8%～9.1% [ 3 , 4 ]。相比高度近视，病理性近视人群往往更大概率伴有早发性白内障、青光眼、后巩膜葡萄肿、视网膜脱离、黄斑裂孔、视网膜脉络膜萎缩、近视性脉络膜新生血管(myopic choroidal neovascularization，mCNV)等诸多并发症 [ 1 , 2 , 5 ]，是导致低视力，甚至致盲的主要原因之一。病理性近视的发病机制具有复杂性和多元性，来自环境和遗传方面的诸多因素共同影响着其发生和发展。遗传因素方面，至今已有超过150个基因和25个基因位点被证实与近视发病相关，其中近20个基因位点被证明与高度近视相关 [ 6 ]，但尚无针对病理性近视遗传学层面的研究。病理性近视在眼部并发症的发生与视力预后方面应区别于单纯的高度近视，对病理性近视遗传背景的探索对于其病理机制的深入理解以及后续并发症的预测和诊疗具有极其重要的价值。本综述旨在对病理性近视并发症的遗传背景进行整理和分析，在已知高度近视致病基因研究的基础上，对与病理性近视并发症发生和发展相关的基因进行归纳整理，以期为今后探讨病理性近视特征性的遗传背景奠定基础，并为病理性近视的临床诊断以及相关并发症的预防和治疗提供新思路。
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卢奕，Email： mocdef.3ab61tneeiyul
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所有作者均声明不存在利益冲突
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国家自然科学基金 (81670835)
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