1例Leber遗传性视神经病变早期诊断和治疗  

An Early Case of Leber’s Hereditary Optic Neuropathy to Diagnose and Treat

作　　者：王丹[1] 项楠[1] 吴晨冕 马思琪[1] 元佳佳 刘畅[1] 李斌[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院眼科,湖北武汉

出　　处：《眼科学》2017年第2期45-50,共6页Hans Journal of Ophthalmology

摘　　要：LHON发病是因为线粒体DNA位点突变导致能量不足,视神经细胞萎缩甚至死亡。rAAV2-ND4提供正常的ND4,增加能量供应,有潜力治愈LHON。我们观察了一例视神经受损早期的患者,希望能进一步明确早期诊断、治疗对于LHON的影响,此病例中,患者病程短,发病后迅速予以营养神经、能量供给后患者视力曾恢复至OD:0.8 OS:0.6。LHON is caused by a point mutation in mtDNA, which leads to a reduction in energy production by the mitochondria. Because optic nerve tissue requires much more energy than other tissues, it becomes severely damaged when energy production drops, and pathological changes in optic nerve cells and even atrophy can occur. Given the results of the present study, it seems potential to suppose that rAAV2-ND4 therapy supplied normal ND4 to the mitochondria, and thus increased energy supply to the optic nerve. We observed an early case to explore how to diagnose and treat matters earlier. In this case, the patient was newly attacked. He got medicine for energy and nerve nutrition almost immediately. His visual acuity of right eye was improved to 0.8, which of the left eye was improved to 0.6.

关 键 词：LEBER遗传性视神经病 视神经炎 母系遗传 线粒体眼病 早期治疗 基因治疗 

分 类 号：R77[医药卫生—眼科]