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Neuroimaging changes in the pregeniculate visual pathway and chiasmal enlargement in Leber hereditary optic neuropathy

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机构： [1]Medical School of Chinese PLA, Beijing, China [2]Department of Ophthalmology, Third Medical Center of Chinese PLA General Hospital, Beijing, China [3]John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit,Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK [4]Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK [5]Moorfields Eye Hospital NHS Foundation Trust, London, UK [6]Institute of Ophthalmology, University College London, London, UK

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To describe the pattern of MRI changes in the pregeniculate visual pathway in Leber hereditary optic neuropathy (LHON).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.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).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.© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.

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出版当年[2023]版：

大类 | 2 区

医学

小类 | 2 区眼科学

最新[2025]版：

大类 | 2 区医学

小类 | 2 区眼科学

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第一作者机构： [1]Medical School of Chinese PLA, Beijing, China [2]Department of Ophthalmology, Third Medical Center of Chinese PLA General Hospital, Beijing, China

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通讯机构： [1]Medical School of Chinese PLA, Beijing, China [3]John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit,Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK [4]Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK [5]Moorfields Eye Hospital NHS Foundation Trust, London, UK [6]Institute of Ophthalmology, University College London, London, UK [*1]Ophthalmology, 3rd Medical Center of Chinese PLA General Hospital, Beijing, China [*2]John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom

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