病理性近视并发症遗传学研究进展

Advances in genetic research on complications of pathological myopia

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。

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.