X连锁视网膜劈裂症临床诊疗的中国专家共识(2025)  

Expert consensus on the diagnosis and treatment of X-linked retinoschisis in China(2025)

作　　者：中国医师协会眼科医师分会遗传眼病学组 陈建苏 睢瑞芳[3] 唐仕波[2] Genetic Eye Disease Group,Ophthalmologist Branch,Chinese Medical Doctor Association;Chen Jiansu;Sui Ruifang;Tang Shibo(不详;Aier Academy of Ophthalmology,Central South University,Aier Eye Institute,Changsha 410035,China;Department of Ophthalmology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]不详 [2]中南大学爱尔眼科研究院、爱尔眼科研究所,长沙410035 [3]中国医学科学院北京协和医院眼科,北京100730

出　　处：《中华实验眼科杂志》2025年第1期1-8,共8页Chinese Journal Of Experimental Ophthalmology

基　　金：国家自然科学基金(32061160469、82371067);广东省科技重点专项(2021A0505110005)

摘　　要：X连锁视网膜劈裂症(XLRS)亦称为遗传性视网膜劈裂症,是X染色体连锁遗传的难治性视网膜疾病。XLRS的主要特征为不同程度的视力下降、视网膜神经上皮的层间或层内劈裂及视网膜电图(ERG)b波振幅的明显降低,严重影响患者的视觉质量与生活质量。XLRS的发病机制尚未完全明确,其准确诊断基于患者的临床表型、ERG的负波形特征和光学相干断层扫描(OCT)的黄斑区囊腔形成以及遗传学诊断。目前临床上XLRS尚无有效治疗方法,最新的治疗进展和研究热点是基因替代疗法。由于目前部分临床医生对本病的认知尚不足,给XLRS的规范诊疗带来很大挑战。中国医师协会眼科医师分会遗传眼病学组基于国内外公开发表的研究文献、仍在进行中的临床试验和专家成员的临床实践经验制定了《X连锁视网膜劈裂症临床诊疗的中国专家共识(2025)》,对XLRS概念的基本认知、发病机制、诊断流程、治疗进展和遗传咨询提出专家建议,以指导临床医生的临床实践工作。X-linked retinoschisis(XLRS),known as hereditary retinoschisis,is an X-linked recessive and refractory retinal disease that significantly impacts patients'vision and quality of life.The main characteristics of XLRS include mild to severe vision loss,inter-or intra-layer splitting of retinal neuroepithelium,and a notable reduction in the b-wave amplitude of electroretinogram(ERG).While the pathogenesis of XLRS remains unclear,its accurate diagnosis relies on the patient's clinical phenotype,the characteristic negative waveform of the ERG,the presence of cystic changes in the macular area on optical coherence tomography(OCT),and genetic diagnosis.Currently,there is no effective treatment for XLRS in clinical practice,and gene replacement therapy represents the latest advance in treatment research.However,due to limited awareness of the disease among clinicians,standardizing the diagnosis and treatment of XLRS remains a challenge.In response,the Genetic Eye Disease Group,Ophthalmologist Branch,Chinese Medical Doctor Association has developed Expert consensus on the diagnosis and treatment of X-linked retinoschisis in China(2025),based on published research,ongoing clinical trials,and the clinical experience of experts.The consensus provides recommendations on the basic understanding,pathogenesis,diagnostic processes,treatment advances,and genetic counseling of the disease,aiming to guide clinicians in improving clinical practice.

关 键 词：X连锁视网膜劈裂症 诊断 治疗 专家共识 

分 类 号：R774.1[医药卫生—眼科]