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Trauma-Associated Leber Hereditary Optic Neuropathy

机译:创伤相关的莱伯遗传性视神经病变

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A 19-year-old man developed visual loss in the left eye 1 day following a martial arts kick to the head. Vision worsened over a week, when visual loss was noted in the right eye without further trauma. The fundus was initially normal, but visual field testing showed temporal depression right eye with diffuse depression left eye, and traumatic chiasmopathy was suspected. Magnetic resonance imaging (MR!) of the brain demonstrated an enlarged chiasm with intrinsic signal abnormality, but no enhancement. Treatment with intravenous corticosteroids and hyperbaric oxygen therapy did not result in visual improvement. Ancillary testing for atypical optic neuritis was negative, but testing for LHON was positive for the 11778 mutation. This case raises the question of trauma as a precipitating factor for LHON and illustrates the rare occurrence of intrinsic signal abnormalities of the chiasm in this disorder.
机译:一名19岁男子在武术踢到头部后1天左眼出现视力下降。当右眼注意到视力下降而没有进一步的创伤时,视力恶化了一周。眼底起初是正常的,但视野测试显示颞下沉右眼伴弥漫性下沉左眼,并怀疑有外伤性交感神经病。大脑的磁共振成像(MR!)表现为扩大的chiasm伴有固有信号异常,但没有增强。静脉内糖皮质激素治疗和高压氧治疗未导致视觉改善。非典型性视神经炎的辅助检测为阴性,但11778突变的LHON检测为阳性。该病例提出了创伤作为LHON促发因素的问题,并说明了在这种疾病中极少发生的chiasm内在信号异常。

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