Pietraszkiewicz Alexandra, Ayesha Azraa, Digre Kathleen B, Warner Judith Ea, Seay Meagan D, Crum Alison V, Katz Bradley J
Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah Health, Salt Lake City, UT, USA.
Department of Neurology, University of Utah Health, Salt Lake City, UT, USA.
Am J Ophthalmol Case Rep. 2024 Aug 22;36:102143. doi: 10.1016/j.ajoc.2024.102143. eCollection 2024 Dec.
Reports of atypical cases have increased awareness that Leber's hereditary optic neuropathy (LHON) is not solely a disease of young men. Here, we present a case of a 70-year-old woman who presented with bilateral sequential loss of vision, and, after several diagnostic dilemmas, was ultimately found to have LHON.
Our patient presented with a one-month history of progressive central vision loss in the right eye. Her visual acuities were 20/200-1 and 20/25-2. She had no afferent pupillary defect and intraocular pressures were normal. Fundus examination revealed cup-to-disc ratios of 0.9 and 0.7 with an inferior notch on the right. Visual fields showed superior arcuate and cecocentral depressions on the right and an inferior nasal step on the left. Ocular coherence tomography showed bilateral, superior and inferior retinal nerve fiber layer thinning. She was diagnosed with normal-tension glaucoma. Laboratory studies and neuroimaging were unremarkable. One month later, she presented with new central vision loss in the left eye. Ocular coherence tomography revealed new, mild optic nerve swelling in the left eye. Due to concern for an acute-on-chronic process, she was hospitalized and treated with intravenous steroids and later plasmapheresis with modest improvement. An extensive laboratory evaluation, lumbar puncture, temporal artery biopsy, and PET CT were normal. Mitochondrial genetic testing was ordered. After a six-week delay, the results revealed a pathogenic variant at mitochondrial position 11778, consistent with a diagnosis of LHON. She began treatment with idebenone. At the most recent visit, her vision had improved to 20/40 and 20/30.
LHON is typically not part of the initial differential diagnosis of an optic neuropathy in patients outside the typical demographic. As genetic testing has become more widely available, clinicians should consider including LHON in their differential diagnosis of any optic neuropathy, especially if other, more common causes have been ruled out.
非典型病例报告提高了人们对Leber遗传性视神经病变（LHON）并非仅见于年轻男性的认识。在此，我们报告一例70岁女性患者，该患者出现双眼视力先后丧失，经过多次诊断困境后，最终被确诊为LHON。
我们的患者有右眼进行性中心视力丧失1个月的病史。她的视力分别为20/200-1和20/25-2。她没有传入性瞳孔缺陷，眼压正常。眼底检查显示杯盘比分别为0.9和0.7，右侧有下方切迹。视野检查显示右侧有上弓形和中心暗点，左侧有下方鼻侧阶梯状缺损。光学相干断层扫描显示双侧视网膜神经纤维层上下方变薄。她被诊断为正常眼压性青光眼。实验室检查和神经影像学检查均无异常。1个月后，她左眼出现新的中心视力丧失。光学相干断层扫描显示左眼有新的轻度视神经肿胀。由于担心是急性加重的慢性过程，她住院治疗，接受了静脉注射类固醇治疗，后来进行了血浆置换，视力有一定改善。广泛的实验室评估、腰椎穿刺、颞动脉活检和PET CT均正常。于是进行了线粒体基因检测。六周后，结果显示线粒体位置11778处有一个致病变异，符合LHON的诊断。她开始接受艾地苯醌治疗。在最近一次就诊时，她的视力已改善至20/40和20/30。
对于典型人群以外的视神经病变患者，LHON通常不属于初始鉴别诊断的范畴。随着基因检测的应用越来越广泛，临床医生在对任何视神经病变进行鉴别诊断时，都应考虑LHON，尤其是在排除了其他更常见的病因之后。
