无脉络膜症临床诊疗中国专家共识(2024年)  

Expert consensus on diagnosis and treatment of choroideremia(2024)

作　　者：中国眼遗传病诊疗小组 中国眼科遗传联盟 睢瑞芳[2] Chinese Hereditary Ocular Disease Diagnosis and Treatment Group;Chinese Hereditary Ocular Disease Alliance;Sui Ruifang(不详;Department of Ophthalmology,Peking UnionMedical College Hospital,Chinese Academy of Medical Sciences,Peking Union Medical College,Beijing100730,China)

机构地区：[1]不详 [2]中国医学科学院北京协和医学院北京协和医院眼科,北京100730

出　　处：《中华眼底病杂志》2024年第5期335-341,共7页Chinese Journal of Ocular Fundus Diseases

基　　金：国家自然科学基金青年项目(82301237);中国医学科学院医学与健康科技创新工程(CIFMS2021-I2M-1-003)。

摘　　要：无脉络膜症(CHM)是一种罕见的X连锁隐性遗传视网膜变性疾病。男性患者表现为进行性加重的夜盲、视野缺损及中心视力下降,病情严重者中年时期即可致盲。尽管女性携带者通常症状轻微,但其临床表征对于患者的早期识别和家庭遗传咨询具有重要意义。当前,CHM的确切发病机制尚未完全阐明,且尚无获批的有效治疗手段。为提升国内医师对CHM的认识并规范临床诊疗流程,中国眼遗传病诊疗小组联合中国眼科遗传联盟集结业内权威专家,经过深入研讨,形成了我国关于CHM临床诊疗的规范化建议。此意见旨在提供一套标准化的诊断框架、监测指标以及综合管理策略,以供临床医师在实践中参考应用,从而优化对CHM患者的医疗服务和遗传指导工作。Choroideremia(CHM)is a rare X-linked recessive genetic inherited degeneration.Affected males present with progressively worsening night blindness,visual field loss,and decreased central vision,which can cause blindness in middle age.Although female carriers typically exhibit mild symptoms,it is essential to understand their clinical features for early diagnosis of patients as well as genetic counseling of family members.The pathogenesis of CHM remains incompletely understood,and currently there is no approved effective treatment.To enhance clinicians’comprehension of CHM and establish standardized clinical approaches to its diagnosis and management,the Chinese Hereditary Ocular Disease Diagnosis and Treatment Group and the Chinese Hereditary Ocular Disease Alliance assembled authoritative experts,through in-depth discussions,formed China's standardized recommedations for the on clinical diagnosis and treatment of CHM.The purpose of this advice is to provide a standardized diagnostic framework,monitoring indicators,and an integrated management strategy for clinicians to use in practice,thereby optimizing the care and genetic guidance for patients with CHM.

关 键 词：无脉络膜症 诊断 治疗 专家共识 

分 类 号：R773.4[医药卫生—眼科]