目前，研究人员已发现多种遗传性眼病的突变基因，但相应的治疗手段仍然匮乏。成簇规律间隔短回文重复序列（Clustered Regularly Interspaced Short Palindromic Repeats，CRISPR）及CRISPR相关蛋白（CRISPR associated proteins，Cas）的出现为这些疾病的治愈提供了可能，该系统能够精确靶向并修改特定基因序列，通过修复突变基因、敲除或替换致病基因来实现治疗效果。在眼科领域，CRISPR/Cas9已应用于角膜营养不良、先天性白内障、青光眼、视网膜色素变性等诸多遗传性眼病中。同时，研究人员利用CRISPR/Cas9构建眼部疾病模型的研究也取得了许多进展。因此，该技术有望在基因遗传性眼病的临床应用中提供巨大帮助，但仍面临递送效率、脱靶效应等挑战。本文对CRISPR/Cas9的作用机制、在遗传性眼病和构建疾病模型中的应用及现有挑战进行综述，以期为治疗眼科疾病提供新思路。

Currently,researchers have identified several mutated genes associated with hereditary eye diseases;however,effective therapeutic options remain scarce.The emergence of CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats)and its associated proteins (CRISPR-associated proteins,Cas) offers a promising approach for treating these diseases.CRISPR/Cas9 enables precise targeting and modification of specific genetic sequences,allowing for the correction of mutated genes,as well as knockout or replacement of pathogenic genes to achieve therapeutic effects.In ophthalmology,CRISPR/Cas9 has been applied to various hereditary eye disorders,including corneal dystrophy,congenital cataracts,glaucoma,and retinitis pigmentosa.Additionally,significant progress has been made to utilize CRISPR/Cas9 to develop disease models.Therefore,it has great potential for clinical applications.However,challenges such as delivery efficiency and off-target effects remain.This review summarizes the mechanism of CRISPR/Cas9,its applications in genetic eye diseases and disease models,as well as the existing challenges,aiming to provide new insights for treatment.

组蛋白去甲基化酶JMJD1C在视网膜病理性血管新生中的作用和机制研究