[关键词]
[摘要]
原发性开角型青光眼(POAG)为最常见的青光眼类型，常见病因有小梁组织的变异、静脉压增高等。POAG有一定的遗传倾向，具有常染色体显性遗传模式的POAG主要由单基因突变引起，研究发现POAG的发病机制可能与关键致病基因(MYOC、OPTN、WDR 36)有关，同时还与线粒体功能障碍、氧化应激以及表观遗传调控等因素密切相关。目前临床对POAG的治疗方案主要包括增强小梁网功能、抑制房水生成、视网膜神经节细胞神经保护与再生以及应用基因编辑技术等，均取得了一定的成果。然而关于POAG的发生与基因的关系及治疗方案的研究尚未形成统一。文章通过分析基因在POAG发病机制中的作用，探索POAG基因治疗的新靶点与治疗策略，旨在为临床治疗此病提供参考。
[Key word]
[Abstract]
Primary open angle glaucoma(POAG)is the most common type of glaucoma, with common causes including variations in trabecular tissue and increased venous pressure. POAG has a certain genetic tendency, and POAG with an autosomal dominant inheritance pattern is mainly caused by single gene mutations. Studies have found that the pathogenesis of POAG may be related to key pathogenic genes(MYOC, OPTN, WDR 36), as well as mitochondrial dysfunction, oxidative stress, and epigenetic regulation. At present, the clinical treatment options for POAG mainly include enhancing trabecular meshwork function, inhibiting aqueous humor production, neuroprotection and regeneration of retinal ganglion cells, and applying gene editing technology, all of which have achieved certain results. However, there is no unified research on the relationship between the occurrence of POAG and genes, as well as treatment plans. The article explores new targets and treatment strategies for POAG gene therapy by analyzing the role of genes in the pathogenesis of POAG, aiming to provide reference for clinical treatment of this disease.
[中图分类号]
[基金项目]
国家自然科学基金项目(No.81770920)
