ABSTRACT

Purpose

To investigate retinal nerve fiber layer (RNFL) thickness changes at different stages of Leber’s hereditary optic neuropathy (LHON) in patients bearing the ND4 G11778A mutation.

Methods

Ninety-eight clinically diagnosed, G11778A-positive LHON patients underwent 538 optical coherence tomography (OCT) examinations from September 2015 to September 2017. Patients were grouped based on disease duration at examination. Fifty healthy volunteers underwent 100 examinations as controls. Differences in RNFL thickness were compared across groups.

Results

During the onset of LHON patients with G11778A mutation, the thickness of nerve fiber layer in temporal quadrant decreased slowly within 1–3 months (p > .05), then entered in the rapid thinning period, which generally lasted until about 12 months of the course of disease (p < .05), and no obvious change occurred in the stable stage (p > .05); The optic nerve fiber layer in other quadrants was usually stayed in a significant thickening period within 1–3 months (p < .05), then entered in the rapid thinning period, which generally lasted until about 24 months of the course of disease (p < .05), and no obvious change occurred in the stable stage (p > .05) .

Conclusion

In LHON patients with G11778A mutation, the thickness of optic nerve fiber layer in the temporal side will experience slow thinning stage, rapid thinning stage and stable stage; The thickness of optic nerve fiber layer in other directions varies with the course of disease. Generally, it will experience five periods: significant thickening period, swelling period, recovery period, rapid thinning period and stable period.

中文翻译：

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ND4 G11778A突变患者Leber遗传性视神经病变不同阶段视网膜神经纤维层厚度的变化

摘要

目的

研究携带 ND4 G11778A 突变的患者在 Leber 遗传性视神经病变 (LHON) 不同阶段的视网膜神经纤维层 (RNFL) 厚度变化。

方法

从 2015 年 9 月到 2017 年 9 月，98 名临床诊断为 G11778A 阳性的 LHON 患者接受了 538 次光学相干断层扫描 (OCT) 检查。根据检查时的病程对患者进行分组。50 名健康志愿者作为对照接受了 100 次检查。比较了各组之间 RNFL 厚度的差异。

结果

G11778A突变的LHON患者发病期间，颞象限神经纤维层厚度在1～3个月内缓慢下降（p >0.05），然后进入快速变薄期，一般持续至发病后12个月左右。病程（p <.05），稳定期无明显变化（p >.05）；其他象限的视神经纤维层通常在 1～3 个月内保持显着增厚期（p < .05），然后进入快速变薄期，一般持续至病程 24 个月左右（p < .05)，稳定期无明显变化( p > .05)。

结论

G11778A突变的LHON患者，颞侧视神经纤维层厚度会经历缓慢变薄阶段、快速变薄阶段和稳定阶段；其他方向的视神经纤维层厚度随病程而变化。一般来说，它会经历五个时期：显着增厚期、肿胀期、恢复期、快速变薄期和稳定期。