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(CRISPR)及CRISPR相关蛋白(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。文章对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 clustered regularly interspaced short palindromic repeats(CRISPR)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.

国家自然科学基金项目(No.82471111)