中国常染色体显性遗传视神经萎缩诊疗专家共识(2024年)

Chinese expert consensus on the clinical diagnosis and treatment of autosomal dominant optic atrophy (2024)

常染色体显性遗传视神经萎缩(ADOA)主要累及视网膜神经节细胞及其轴突,表现为开始于儿童时期的不同程度双眼中心视力下降。鉴于ADOA在临床工作中非常罕见,目前我国眼科医师对该病的认知不足,出现诊断流程不规范以及临床诊断及基因诊断误诊率高等问题。中国罕见病联盟/北京罕见病诊疗与保障学会眼科分会联合中华医学会眼科学分会神经眼科学组,组织国内相关专家,经过多轮背对背提出意见和充分讨论,历时1年,针对ADOA的诊断和治疗达成共识性意见,旨在为临床正确开展工作和研究提供指导和参考,提升我国ADOA的诊疗水平。

Autosomal dominant optic atrophy(ADOA)primarily affects retinal ganglion cells and their axons,resulting in varying degrees of central vision loss from childhood.Due to the rarity of ADOA in clinical practice,Chinese ophthalmologists currently lack sufficient understanding of the disease and experience non-standardized diagnostic procedures and high clinical and genetic misdiagnosis rates.To address these issues,the Ophthalmology Group of China Alliance for Rare Diseases/Beijing Society of Rare Disease Clinical Care and Accessibility and the Neuro-ophthalmology Group of Ophthalmology Branch of Chinese Medical Association have established an expert panel to form consensus opinions based on extensive discussions.This consensus would enhance the knowledge and diagnostic capabilities of Chinese clinicians regarding ADOA and promote awareness of related treatment principles and genetic counseling.