Ling Wang1, Hao Ding2,3, Bihong T Chen4, Ke Fan5, Qin Tian1, Miaomiao Long2, Meng Liang2,3, Dapeng Shi1, Chunshui Yu2, Wen Qin2. 1. Department of Medical Imaging, Henan Provincial People's Hospital, Zhengzhou, 450003, China. 2. Department of Radiology & Tianjin Key Lab of Functional Imaging, Tianjin Medical University General Hospital, Tianjin, 300052, China. 3. School of Medical Imaging, Tianjin Medical University, Tianjin, 300070, China. 4. Department of Diagnostic Radiology, City of Hope National Medical Center, Duarte, CA, 91010, USA. 5. Henan Eye Institute, Henan Eye Hospital, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, 450003, China.
Abstract
BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a disease maternally inherited from mitochondria that predominantly impairs the retinal ganglion cells and their axons. To identify whether occult brain white matter (WM) impairment is involved, a voxel-based analysis (VBA) of diffusion metrics was carried out in LHON patients with normal-appearing brain parenchyma. METHODS: Fifty-four symptomatic LHON patients (including 22 acute LHON with vision loss <= 12 months, and 32 chronic LHON) without any visible brain lesions and 36 healthy controls (HC) were enrolled in this study. VBA was applied to quantify the WM microstructural changes of LHON patients. Finally, the associations of the severity of WM impairment with disease duration and ophthalmologic deficits were assessed. RESULTS: Compared with the HC, the average retinal nerve fiber layer (RNFL) thickness was significantly reduced in patients with chronic LHON, while was increased in patients with acute LHON (P < 0.05, corrected). VBA identified significantly decreased fractional anisotropy widely in WM in both the acute and chronic LHON patients, including the left anterior thalamic radiation and superior longitudinal fasciculus, and bilateral corticospinal tract, dentate nuclei, inferior longitudinal fasciculus, forceps major, and optic radiation (OR) (P < 0.05, corrected). The integrity of most WM structures (except for the OR) was correlated with neither disease duration nor RNFL thickness (P > 0.05, corrected). CONCLUSIONS: Occult primary impairment of widespread brain white matter is present in LHON patients. The co-existing primary and secondary white matter impairment may jointly contribute to the pathological process of LHON. This article is protected by copyright. All rights reserved.
BACKGROUND:Leber's hereditary optic neuropathy (LHON) is a disease maternally inherited from mitochondria that predominantly impairs the retinal ganglion cells and their axons. To identify whether occult brain white matter (WM) impairment is involved, a voxel-based analysis (VBA) of diffusion metrics was carried out in LHON patients with normal-appearing brain parenchyma. METHODS: Fifty-four symptomatic LHON patients (including 22 acute LHON with vision loss <= 12 months, and 32 chronic LHON) without any visible brain lesions and 36 healthy controls (HC) were enrolled in this study. VBA was applied to quantify the WM microstructural changes of LHON patients. Finally, the associations of the severity of WM impairment with disease duration and ophthalmologic deficits were assessed. RESULTS: Compared with the HC, the average retinal nerve fiber layer (RNFL) thickness was significantly reduced in patients with chronic LHON, while was increased in patients with acute LHON (P < 0.05, corrected). VBA identified significantly decreased fractional anisotropy widely in WM in both the acute and chronic LHON patients, including the left anterior thalamic radiation and superior longitudinal fasciculus, and bilateral corticospinal tract, dentate nuclei, inferior longitudinal fasciculus, forceps major, and optic radiation (OR) (P < 0.05, corrected). The integrity of most WM structures (except for the OR) was correlated with neither disease duration nor RNFL thickness (P > 0.05, corrected). CONCLUSIONS: Occult primary impairment of widespread brain white matter is present in LHON patients. The co-existing primary and secondary white matter impairment may jointly contribute to the pathological process of LHON. This article is protected by copyright. All rights reserved.