Purpose To describe the pattern of MRI changes in the pregeniculate visual pathway in Leber hereditary optic neuropathy (LHON). Method This retrospective observational study enrolled 60 patients with LHON between January 2015 and December 2021. The abnormal MRI features seen in the pregeniculate visual pathway were investigated, and then correlated with the causative mitochondrial DNA (mtDNA) mutation, the distribution of the MRI lesions and the duration of vision loss. Result The cohort included 48 (80%) males and 53 (88%) had bilateral vision loss. The median age of onset was 17.0 years (range 4.0–58.0). 28 (47%) patients had the m.11778G>A mutation. 34 (57%) patients had T2 hyperintensity (HS) in the pregeniculate visual pathway and 13 (22%) patients with chiasmal enlargement. 20 patients (71%) carrying the m.11778G>A mutation had T2 HS, significantly more than the 14 patients (44%) with T2 HS in the other LHON mutation groups (p=0.039). Furthermore, significantly more patients in the m.11778G>A group (16 patients (57%)) had T2 HS in optic chiasm (OCh)/optic tract (OTr) than the other LHON mutation groups (7 patients (22%), p=0.005). Optic chiasmal enlargement was more common in patients with vision loss duration <3 months compared with those ≥3 months (p=0.028). Conclusion T2 HS in the pregeniculate visual pathway is a frequent finding in LHON. Signal changes in the OCh/OTr and chiasmal enlargement, in particular within the first 3 months of visual loss, were more commonly seen in patients carrying the m.11778G>A mtDNA mutation, which may be of diagnostic significance. All data relevant to the study are included in the article or uploaded as supplementary information.

中文翻译：

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莱伯遗传性视神经病的前膝状视觉通路和视交叉扩大的神经影像学变化


目的 描述 Leber 遗传性视神经病变 (LHON) 患者膝状体前视觉通路的 MRI 变化模式。方法 这项回顾性观察研究纳入了 2015 年 1 月至 2021 年 12 月期间的 60 例 LHON 患者。调查了膝状体前视觉通路中的异常 MRI 特征，然后与致病线粒体 DNA (mtDNA) 突变、MRI 病灶分布和视力丧失的持续时间。结果 该队列包括 48 名 (80%) 男性，其中 53 名 (88%) 患有双侧视力丧失。中位发病年龄为 17.0 岁（范围 4.0-58.0）。 28 名 (47%) 患者存在 m.11778G>A 突变。 34 名患者 (57%) 存在膝前视觉通路 T2 高信号 (HS)，13 名患者 (22%) 存在视交叉扩大。 20 名携带 m.11778G>A 突变的患者 (71%) 患有 T2 HS，显着多于其他 LHON 突变组中 14 名患有 T2 HS 的患者 (44%) (p=0.039)。此外，m.11778G>A 组中的患者（16 名患者（57%））明显多于其他 LHON 突变组（7 名患者（22%）， p=0.005）。视交叉扩大在视力丧失持续时间<3 id=58> mtDNA突变的患者中更为常见，这可能具有诊断意义。与研究相关的所有数据都包含在文章中或作为补充信息上传。