G11778A位点突变的9例Leber遗传性视神经病变患者的临床特征

Clinical feature of 9 patients harboring mtDNA G11778A mutation with Leber hereditary optic neuropathy

摘要:

目的：探讨经线粒体DNA分析(mtDNA)确诊为G11778A位点突变阳性的9例Leber遗传性视神经病变(LHON)患者的临床特征。

方法：收集2012-12/2015-12就诊于深圳市眼科医院门诊行mtDNA检测均为G11778A突变的9例LHON患者的临床资料，随访并总结其临床特征。

结果：所选9例患者中，有母系遗传者6例(67%)，散发病例3例(33%)。就诊年龄9～43(平均22.00±9.42)岁。其中双眼同时发病5例(56%)； 双眼先后发病4例(44%)。发病者男女比例为2：1。末次随访时，数指2眼(11%)； 0.01～0.1者12眼(67%)； 0.12～0.4者2眼(11%)； ≥0.4者2眼(11%)。所有患者均表现为视盘色苍白、边界清楚。视野检查表现为中心暗点或者旁中心暗点10眼，表现为弥漫性视野损害8眼。

结论：此次收集的9例G11778A位点突变的LHON患者中，双眼同时发病较1a内单眼先后发病的患者的情况更为多见。病程末期视力稳定病例较视力持续损害病例多。少数患者在1a内患眼有视力提高的情况。视野缺损表现多见中心暗点或者旁中心暗点，病程末期可见视野弥漫性缺损。继发眼的视野损害与先发作眼视野表现类似。

Abstract:

AIM: To evaluate the clinical feature of 9 patients harboring mitochondrial DNA(mtDNA)G11778A mutation with Leber hereditary optic neuropathy(LHON).

METHODS: Nine LHON patients were enrolled and followed-up between 2012 to 2015 in Shenzhen Eye Hospital, clinical data were collected and analyzed.

RESULTS: Six cases had maternal inheritance history(67%). Three were sporadic cases. The patients aged from 9 to 43 years old, with average age of(22.00±9.42)years. Simultaneous onset with both eyes was in 5 cases(56%). Successively onset was in other 4 cases(44%). The ratio between male and female was 2:1. In the last follow-up, the visual acuity was finger counted in 2 eyes(11%), 0.01-0.1 in 12 eyes(67%), 0.12-0.4 in 2 eyes(11%), ≥0.4 in 2 eyes(11%). All patients had pale disc and clear boundary. In the Humphrey visual field examination, 10 eyes had typically cecocentral or paracentral scotoma, 8 eyes had diffuse visual field defect.

CONCLUSION: In the 9 LHON patients with mtDNA G11778A mutation, simultaneous onset cases were more than successively onset cases within 1y cases. In most cases, LHON patients kept stable visual acuity. Rare cases had a raise in visual acuity within 1y. Majority patients had typically cecocentral or paracentral visual field scotoma. In the last stage of LHON, visual field present diffused defect. The secondary affected eye was similar performed defect as the former one.