MFN2基因突变致轴突型腓骨肌萎缩症2A2A型视神经萎缩1例  

Optic atrophy in a patient with axonal Charcot-Marie-Tooth disease 2A2A due to MFN2 gene mutations

作　　者：潘春艳 白文浩 孙明明 魏世辉[1] 周欢粉[1] Pan Chunyan;Bai Wenhao;Sun Mingming;Wei Shihui;Zhou Huanfen(Ophthalmology Division of Chinese PLA General Hospital,Beijing 100853,China)

机构地区：[1]解放军总医院眼科医学部,北京100853

出　　处：《中华眼科杂志》2023年第5期408-410,共3页Chinese Journal of Ophthalmology

基　　金：国家重点研发计划(2018YFE0113900);国家自然科学基金青年项目(82101110)。

摘　　要：1例27岁双眼渐进性视力下降男性患者,表现为双眼黄斑区节细胞受损,全身伴四肢肌萎缩改变,完善线粒体全外显子基因检测,诊断为轴突型腓骨肌萎缩症2A2A型。该病临床尚无有效治疗方法,营养线粒体可能缓解临床症状。A 27-year-old male patient had progressive vision loss in both eyes,which was mainly manifested by impaired ganglion cells in the macular area,accompanied by systemic muscle atrophy in limbs.A complete mitochondrial exon gene detection was performed.The final diagnosis was bilateral optic atrophy and axonal Charcot-Marie-Tooth disease 2A2A caused by mutations of the MFN2 gene.There has been no effective treatment.Applications of nutrients to restore the mitochondrial function may alleviate the clinical symptoms.

关 键 词：视神经萎缩 夏科-马里-图斯病 GTP磷酸水解酶类 线粒体蛋白质类 突变 

分 类 号：R774.63[医药卫生—眼科]