Department of Neurology (CB, YB), CHU de DIJON, Dijon, France; Department of Neuro-radiology (FH), Fondation Ophtalmologique Adolphe de Rothschild, Paris, France; Department of Neuro-radiology (CH), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France; Clinical Center of Investigations (JS, CV-C), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France; and Department of Neuro-Ophthalmology (JS, CV-C), Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
J Neuroophthalmol. 2018 Dec;38(4):434-437. doi: 10.1097/WNO.0000000000000621.
The aim of this study was to characterize brain and orbital MRI features of patients with Leber hereditary optic neuropathy (LHON), with particular attention to the optic nerves and chiasm.
We studied a patient cohort with genetically confirmed LHON followed at 2 ophthalmologic hospitals in France between 2013 and 2015. High-resolution brain and orbital MRI studies were analyzed for each patient during the first 12 months after the onset of visual loss was analyzed.
Our study included 20 men and 8 women with a mean age of 38.3 years at diagnosis, and all had genetic mutations for LHON. Nineteen patients (67.9%) had T2 hyperintensity in the posterior portion of both optic nerves and in the optic chiasm, and enlargement of the chiasm was found in 16 patients (59.3%). No enhancement of the optic nerves or chiasm was detected. The T2 hyperintensity lesions were not associated with the time between symptom onset and obtaining MRI, the mutation type, or sex of the patient. Nonspecific T2 white matter lesions were found in MRI of 6 patients, but without the characteristics of those found in patients with multiple sclerosis.
Involvement of the posterior portions of the optic nerves has been described previously in case reports of patients with LHON. Our results support this observation with neuroimaging performed within 1 year of onset of visual loss. Enlargement of the optic chiasm also may occur in patients with LHON. The pathophysiology of the MRI changes is not yet understood.
本研究旨在描述莱伯遗传性视神经病变（LHON）患者的脑和眼眶 MRI 特征，尤其关注视神经和视交叉。
我们研究了 2013 年至 2015 年期间在法国的 2 家眼科医院就诊的经基因证实的 LHON 患者队列。对每位患者在视觉丧失发生后的前 12 个月内进行高分辨率脑和眼眶 MRI 研究。
本研究共纳入 20 名男性和 8 名女性患者，诊断时的平均年龄为 38.3 岁，均存在 LHON 基因突变。19 名患者（67.9%）双侧视神经后部和视交叉存在 T2 高信号，16 名患者（59.3%）视交叉增大。未发现视神经或视交叉增强。视神经和视交叉的 T2 高信号病变与症状出现到获得 MRI 之间的时间、突变类型或患者性别无关。6 名患者的 MRI 显示存在非特异性 T2 脑白质病变，但无多发性硬化患者的特征。
以前在 LHON 患者的病例报告中描述过视神经后部受累。我们的结果通过视觉丧失发生后 1 年内进行的神经影像学检查支持了这一观察。视交叉增大也可能发生在 LHON 患者中。MRI 变化的病理生理学尚未得到理解。
