Leber先天黑矇诊疗的中国专家共识(2023)  

Chinese expert consensus on diagnosis and treatment of Leber congenital amaurosis(2023)

作　　者：中国眼遗传病诊疗小组 中国眼科遗传联盟 睢瑞芳[2] 邹绚[2] Chinese Hereditary Ocular Disease Diagnosis and Treatment Group;Chinese Hereditary Ocular Disease Alliance;Sui Ruifang(不详;Department of Ophthalmology,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China)

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

出　　处：《中华实验眼科杂志》2023年第9期833-842,共10页Chinese Journal Of Experimental Ophthalmology

基　　金：中国医学科学院医学与健康科技创新工程(2021-I2M-1-003-202-01);北京协和医院中央高水平医院临床科研专项(LY22B1020003373)。

摘　　要：Leber先天性黑矇(LCA)是一种早发的会导致视功能严重损害的遗传性视网膜疾病, 具有遗传异质性与表型多样性的特点, 并表现出一定的基因型-临床表型相关性, 其临床诊断和治疗均面临诸多挑战。一方面, LCA属于罕见病, 发病率低, 因此大多数眼科医师对LCA的临床表现尚未完全了解, 故常常导致误诊或漏诊, 延误治疗的最佳时机并影响患者的预后;另一方面, LCA基因治疗方法已经进入了临床试验阶段并取得了突破性进展, 迫切要求广大眼科医师对LCA的表现及诊疗知识有更深入的认知, 以便为患者提供治疗机会, 改善患者的生活质量。目前由于国内眼科医师对LCA基本概念的欠缺而限制了对该病诊断和治疗方法的临床应用, 中国眼科遗传联盟组织有关专家成立专家共识讨论小组, 充分收集眼科医师在LCA诊疗过程中存在的主要问题, 在认真复习国内外相关重要文献的基础上, 结合专家组成员在相关临床研究和基础研究的成果以及临床实践经验, 针对LCA的临床表现、诊断与鉴别诊断、基因检测策略以及治疗方案等问题撰写了《Leber先天黑矇诊疗的中国专家共识(2023)》, 以指导中国广大眼科临床医师的医疗实践。Leber congenital amaurosis(LCA)is a group of early-onset hereditary retinal dystrophies characterized by genetic and phenotypic heterogeneity.LCA can cause severe visual impairment and shows a certain genotype-phenotype correlation,and its diagnosis and treatment face many challenges.On one hand,because LCA is a rare disease,most ophthalmologists are not familiar with its clinical manifestations,and misdiagnosis is very common.On the other hand,some clinical trials of gene therapy for LCA have been initiated,and breakthroughs have been achieved,requiring ophthalmologists to have a deeper understanding of the disease in order to make treatment available to more patients.Due to the lack of basic knowledge about LCA,the diagnosis and treatment methods for LCA are not widely used in China.The Chinese Hereditary Ocular Disease Alliance has organized relevant experts to form an expert consensus group,to fully collect the major challenges faced by ophthalmologists in diagnosing and treating LCA.Based on a careful review of relevant important literature at home and abroad,the achievements of the expert group members in relevant clinical and basic research,as well as their clinical practice experience,the Chinese Expert Consensus on the clinical manifestations,diagnosis and differential diagnosis,gene testing strategies,and treatment plans of LCA was completed to guide the medical practice of ophthalmologists in China.

关 键 词：Leber先天性黑矇 早发严重型视网膜色素变性 基因治疗 基因型 临床表型 专家共识 

分 类 号：R774.1[医药卫生—眼科]