《无脉络膜症临床诊疗中国专家共识(2024年)》解读  

Interpretation of Expert consensus on diagnosis and treatment of choroideremia(2024)

作　　者：韩筱煦 睢瑞芳[1] Han Xiaoxu;Sui Ruifang(Department of Ophthalmology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Peking Union Medical College,Beijing 100730,China)

机构地区：[1]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7期495-499,共5页Chinese Journal of Ocular Fundus Diseases

基　　金：国家自然科学基金(82301237);中国医学科学院医学与健康科技创新工程(CIFMS 2021-I2M-1-003)。

摘　　要：无脉络膜症(CHM)是一种罕见的遗传性致盲性眼病。由CHM基因致病性变异引起,呈现X连锁隐性遗传的特征。男性患者表现为进行性加重的夜盲、视野缺损及视力下降,中年即可失明。女性携带者虽多症状轻微,但了解其临床特征对患者的早期诊断以及家庭的遗传咨询非常重要。目前我国各地区、各层级眼科医师对CHM的识别率及确诊率仍有待提高,需要规范化的临床诊疗路径以满足患者的诊治需求,由中国眼遗传病诊疗小组、中国眼科遗传联盟牵头,在综合国内外现有循证证据的基础上,编纂了《无脉络膜症临床诊疗中国专家共识(2024年)》,系统全面地阐述了CHM的规范化临床诊疗路径。针对该共识中的要点进行解读,有助于突显其中的核心要点和思想,提高各级眼科医师对CHM诊治的规范性和有效性。Choroideremia(CHM)is a rare inherited eye disease that leads to blindness.It is caused by pathogenic variants in the CHM gene and exhibits X-linked recessive inheritance.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.Currently,the recognition and diagnosis rates of CHM among ophthalmologists in various regions and levels of hospitals in China still need to be improved.A standardized clinical pathway is needed to meet the diagnostic and treatment needs of patients.Led by the the Chinese Hereditary Ocular Disease Diagnosis and the Treatment Group and the Chinese Hereditary Ocular Disease Alliance,based on existing evidence both domestically and internationally,the Expert consensus on diagnosis and treatment of choroideremia(2024)has been compiled,systematically and comprehensively elaborating on the standardized clinical pathways for CHM.Interpreting the key points of this consensus will help highlight its core points and ideas,enhancing the standardization and effectiveness of the diagnosis and treatment of CHM by ophthalmologists from all levels of hospitals.

关 键 词：无脉络膜症 CHM基因变异 遗传性眼病 共识解读 

分 类 号：R773.4[医药卫生—眼科]