MRI of the Optic Nerves and Chiasm in Patients With Leber Hereditary Optic Neuropathy
MRI of the Optic Nerves and Chiasm in Patients With Leber Hereditary Optic Neuropathy
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DOI：
10.1097/wno.0000000000000621
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发表时间：
2018-12-01
影响因子：
2.9
通讯作者：
Vignal-Clermont, Catherine
中科院分区：
文献类型：
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作者：
Blanc, Christelle;Heran, Francoise;Vignal-Clermont, Catherine
背景资料：本研究的目的是描述Leber遗传性视神经病变（LHON）患者的大脑和眼眶MRI特征，特别注意视神经和视交叉。方法：我们研究了2013年至2015年期间在法国2家眼科医院进行遗传学证实的LHON患者队列。高分辨率的大脑和眼眶MRI研究进行了分析，为每个病人在发病后的第一个12个月的视力lossesanalyzed.Results：我们的研究包括20名男性和8名女性，平均年龄为38.3岁的诊断，所有的LHON基因突变。19例（67.9%）患者的视神经后部和视交叉T2高信号，16例（59.3%）患者的视交叉扩大。未发现视神经或视交叉增强。T2高信号病变与症状发作和获得MRI之间的时间、突变类型或患者性别无关。非特异性的T2白色物质病变被发现在MRI的6例，但没有发现在多发性sclerosis.Conclusions患者的特征：参与的视神经的后部已被描述以前的病例报告的患者LHON。我们的研究结果支持这一观察与神经影像学进行了1年内的视力丧失。LHON患者也可能出现视交叉狭窄。MRI改变的病理生理学尚不清楚。(C)2017年北美神经眼科学会
Background: 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.Method: 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.Results: 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.Conclusions: 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. (C) 2017 by North American Neuro-Ophthalmology Society