Ødegaard Eva Meling, Jørstad Øystein Kalsnes, Kerty Emilia
Tidsskr Nor Laegeforen. 2018 Aug 10;138(12). doi: 10.4045/tidsskr.17.0802. Print 2018 Aug 21.
The diagnosis of acute optic neuropathy is made clinically. In young patients demyelinating optic neuritis is the most common cause. However, other autoimmune diseases, infections and other non-inflammatory conditions may also cause inflammation. Careful clinical workup is necessary to establish the correct diagnosis and treatment. We describe the clinical approach to a case of acute optic neuropathy with several atypical features. The same case was published in the Journal of Neuro-Ophthalmology.
A male teenager developed acute and painless bilateral visual loss. Fundoscopy revealed optic disc hypaeremia with telangiectasia. Magnetic resonance imaging demonstrated contrast enhancement of the optic nerves and chiasm without evidence of demyelinating disease. There was no visual improvement after methylprednisolone treatment. Genetic analysis for the 3 common Leber hereditary optic neuropathy (LHON) mutations was negative. However, idebenone treatment was followed by a marked improvement in visual function. Whole mitochondrial genome sequencing eventually detected a rare LHON mutation.
There are many different causes of acute optic neuropathy. Making the correct diagnosis is important, as clinical management differs. Idebenone is now a treatment option for LHON. Whole mitochondrial genome sequencing is sometimes necessary to confirm the diagnosis.
急性视神经病变的诊断依靠临床判断。在年轻患者中，脱髓鞘性视神经炎是最常见的病因。然而，其他自身免疫性疾病、感染及其他非炎症性疾病也可能引发炎症。进行细致的临床检查对于确立正确的诊断和治疗至关重要。我们描述了一例具有若干非典型特征的急性视神经病变的临床诊疗过程。同一病例已发表于《神经眼科学杂志》。
一名男性青少年出现急性无痛性双侧视力丧失。眼底镜检查显示视盘充血伴毛细血管扩张。磁共振成像显示视神经和视交叉有强化表现，无脱髓鞘疾病证据。甲基强的松龙治疗后视力无改善。对3种常见的Leber遗传性视神经病变（LHON）突变进行的基因分析结果为阴性。然而，艾地苯醌治疗后视觉功能有显著改善。全线粒体基因组测序最终检测到一种罕见的LHON突变。
急性视神经病变有多种不同病因。做出正确诊断很重要，因为临床处理方法有所不同。艾地苯醌现在是LHON的一种治疗选择。有时需要进行全线粒体基因组测序来确诊。
