【摘要】 视神经炎作为一种严重的致盲性眼病，明确病因对于选择适当的治疗方案及评估患者预后具有重要意义。本文报告1例因单眼视力下降诊断为双眼非典型视神经炎患者的临床资料。患者为40岁男性，主诉为左眼视力下降持续2周，入院时体检发现双眼视盘水肿，被诊断为双眼非典型视神经炎。全身检查发现血清梅毒螺旋体颗粒凝集试验呈阳性。在进行一系列血清学及脑脊液的梅毒检查后，排除了梅毒性视神经炎的可能。按照常规治疗视神经炎的方法效果不佳。进一步完善脑部及眼部检查，在排除多种可能的视神经炎病因后，最终通过线粒体基因检测确诊为Leber遗传性视神经病变(Leber hereditary optic neuropathy,LHON)。对于出现急性视力下降且双眼受累、眼底表现典型的年轻男性患者，应高度重视病因学检查，尤其是基因检测的应用，以便实现早期诊断并开展早期治疗。更多还原

【Abstract】 Optic neuritis is a severe blinding ocular disease, and identifying its etiology is crucial for selecting appropriate treatment strategies and evaluating patient prognosis. This paper reports the clinical data of a patient initially presenting with unilateral visual decline who was ultimately diagnosed with bilateral atypical optic neuritis. The patient was a 40-yearold male who presented with decreased vision in the left eye for 2 weeks. Fundus examination at admission revealed bilateral optic disc edema, leading to a diagnosis of bilateral atypical optic neuritis. Systemic examination showed a positive Treponema pallidum particle agglutination test. After a series of serological and cerebrospinal fluid examinations for syphilis, syphilitic optic neuritis was excluded. The patient showed a poor response to conventional treatment for optic neuritis. Further comprehensive brain and ocular examinations were performed. After excluding multiple possible causes of optic neuritis, mitochondrial gene testing ultimately confirmed the diagnosis of Leber hereditary optic neuropathy(LHON). For young male patients presenting with acute vision loss, bilateral involvement, and typical fundus findings, etiological investigation should be emphasized, particularly the application of genetic testing, to achieve early diagnosis and timely treatment.更多还原