作　　者： ;

机构地区： 中华医学会

出　　处： 《中华医学遗传学杂志》 2020年第3期329-333,共5页

摘　　要： 青光眼(glaucoma)是一组视网膜神经节细胞及其轴突变性的进行性视神经病,其典型临床特征为视乳头凹陷性萎缩和特征性视野缺损,遗传因素在其发病过程中起着重要作用。本指南主要介绍单基因变异相关的青光眼,包括原发性先天性青光眼(primary congenital glaucom a,PCG)和原发性开角型青光眼(primary open-angle glaucoma,POAG)的致病基因、疾病诊断以及临床咨询等方面,旨在规范单基因青光眼临床分子遗传诊疗,为临床医生对单基因青光眼诊治和遗传咨询服务提供参考。 Glaucoma is a group of progressive optic neuropathies featuring retinal ganglion cell and axonal degeneration,which typically manifest as sunken atrophy of optic papilla and characteristic visual field defect.Genetic factors play an important role in the pathogenesis of glaucoma.This guideline mainly focuses on single gene mutation-related glaucoma by summarizing the pathogenic genes,disease diagnosis and clinical consultation of primary congenital glaucoma(PCG)and primary open-angle glaucoma(POAG),with an aim to regulate their molecular diagnosis,genetic counseling and treatment.

关 键 词： 原发性先天性青光眼 原发性开角型青光眼 分子诊断 指南

领　　域： []