Azmi Nurul Husna, Silim Anhar Hafiz, Sawri Rajan Rajasudha, Nasaruddin Rona Asnida
Ophthalmology, Hospital Selayang, Selayang, MYS.
Ophthalmology, Hospital Universiti Kebangsaan Malaysia, Kuala Lumpur, MYS.
Cureus. 2025 Apr 8;17(4):e81863. doi: 10.7759/cureus.81863. eCollection 2025 Apr.
A 29-year-old Chinese gentleman presented with acute-onset right eye (RE) central scotoma and blurring of vision. Upon presentation, RE visual acuity (VA) was 6/30. The RE optic disc (OD) was mildly swollen, but other findings were unremarkable. A computed tomography (CT) imaging study showed no evidence of a space-occupying lesion. The erythrocyte sedimentation rate (ESR) and other laboratory blood results were normal. The patient was empirically treated with a course of steroids for optic neuritis (ON), but no marked improvement was noticed. He presented again two months later with worsening visual problems in both eyes (BE). The right and left VA reduced to 6/36 and 6/18, respectively. BE OD appeared swollen and hyperemic. BE central scotoma was confirmed with the Humphrey Visual Field (HVF) test. A magnetic resonance imaging (MRI) study was conducted and only revealed a mild heterogenous hyperintensity of the right optic nerve. There is no other evidence of central nervous lesion suggestive of demyelinating disease. A blood investigation for Leber hereditary optic neuropathy (LHON) genetic testing was done, and a confirmatory result of mitochondrial DNA (mtDNA) G11778A pathogenic mutation was detected.
一名29岁的中国男性患者出现右眼急性发作的中心暗点和视力模糊。就诊时，右眼视力为6/30。右眼视盘轻度肿胀，但其他检查结果无明显异常。计算机断层扫描（CT）成像检查未发现占位性病变。红细胞沉降率（ESR）和其他血液实验室检查结果正常。该患者经验性接受了一个疗程的类固醇治疗视神经炎（ON），但未观察到明显改善。两个月后他再次就诊，双眼视力问题加重。右眼和左眼视力分别降至6/36和6/18。双眼视盘出现肿胀和充血。通过 Humphrey 视野（HVF）测试证实双眼存在中心暗点。进行了磁共振成像（MRI）检查，仅显示右侧视神经有轻度不均匀高信号。没有其他提示脱髓鞘疾病的中枢神经病变证据。进行了血液检查以检测Leber遗传性视神经病变（LHON）基因，检测到线粒体DNA（mtDNA）G11778A致病突变的确诊结果。
