Lai Chun-tao, Wang Qian, Li Zhong, Wang Wei, Zhu Jing, Lu Yang, Zhang Xiao-jun, Yu Hua-feng
Department of Neurology, Tongren Hospital, Capital University of Medical Sciences, Beijing 100730, China.
Zhonghua Yan Ke Za Zhi. 2007 Sep;43(9):793-7.
To compare the clinical characteristics of Leber hereditary optic neuropathy (LHON) with optic neuritis (ON).
The information of clinical manifestation and laboratory tests in 55 patients with LHON and 48 patients with ON were reviewed and analyzed.
Compared with ON, LHON was more commonly found in male patients (46/55 vs 21/48) and onset at younger age (median 16 years vs 30 years). There were more LHON than ON patients with the decrease of visual acuity lasted more than two weeks (42/49 vs 10/48), severe damage in visual acuity whereas little pain sensation in eye associated with eye movement (3/55 vs 26/48), dominant single-phase course (53/55 vs 30/48), central scotoma (26/39 vs 12/35), and family history of maternal relatives (25/50 vs 2/48). The visual evoked potential, cerebral spinal fluid and brain magnetic resonance scanning revealed the involvement of inflammatory demyelination in the patients with LHON. Most patients with LHON could be confirmed by the mtDNA mutation examination.
Leber hereditary optic neuropathy has distinct clinical characteristics but overlap with optic neuritis in many aspects. mtDNA mutation examination can further confirm LHON in most of patients although a negative result may be seen in a small portion of patients showing typical manifestation of LHON.
比较Leber遗传性视神经病变(LHON)与视神经炎(ON)的临床特征。
回顾并分析55例LHON患者和48例ON患者的临床表现及实验室检查信息。
与ON相比,LHON在男性患者中更为常见(46/55 vs 21/48),发病年龄更小(中位年龄16岁 vs 30岁)。LHON患者中视力下降持续超过两周的比例高于ON患者(42/49 vs 10/48),视力严重受损但眼球运动相关眼痛轻微的比例更高(3/55 vs 26/48),单相病程为主(53/55 vs 30/48),中心暗点比例更高(26/39 vs 12/35),母系亲属家族史比例更高(25/50 vs 2/48)。视觉诱发电位、脑脊液及脑磁共振扫描显示LHON患者存在炎性脱髓鞘病变。大多数LHON患者可通过线粒体DNA(mtDNA)突变检测得以确诊。
Leber遗传性视神经病变具有独特的临床特征,但在许多方面与视神经炎存在重叠。mtDNA突变检测虽在一小部分表现典型的LHON患者中可能出现阴性结果,但能进一步确诊大多数LHON患者。