2024 年第 8 期 第 19 卷

常染色体显性视神经萎缩1例

A case of autosomal dominant optic atrophy

作者：刘玥陈丹娜李瑞庄

英文作者：Liu Yue Chen Danna Li Ruizhuang

单位：广东医科大学附属医院眼科，湛江524000

英文单位：Department of Ophthalmology Affiliated Hospital of Guangdong Medical University Zhanjiang 524000 China

关键词：视神经萎缩；遗传性；常染色体显性

英文关键词：Opticatrophy;Hereditary;Autosomaldominant

• 摘要：

• 本文报道1例常染色体显性视神经萎缩病例，为该类疾病的临床诊断提供参考。患儿无明显诱因出现双眼视力差，结合辅助检查及基因检测后诊断为常染色体显性视神经萎缩。该病目前尚无有效的治疗方法，治疗的关键是提高患者的视觉质量，通常建议患者改变生活方式及定期随访复查。

• This article reports a case of autosomal dominant optic atrophy to provide a reference for the clinical diagnosis of this type of disease. The patient had poor vision in both eyes without any obvious cause, and was diagnosed with autosomal dominant optic atrophy after combining auxiliary examinations and genetic testing. There is currently no effective treatment for this disease, and the key to treatment is to improve the patient′s visual quality. Lifestyle changes and regular follow-up examinations are usually recommended.