Sanders Francis W B, Votruba Marcela
University Hospital of Wales, Cardiff, UK.
School of Optometry & Vision Sciences, Cardiff University, Cardiff, UK.
Eye (Lond). 2025 Sep 17. doi: 10.1038/s41433-025-03993-x.
Leber hereditary optic neuropathy (LHON) poses a significant burden to patients, with the majority not showing significant spontaneous improvement in their vision. The recent validation of idebenone as a therapy provides some avenue for benefit for patients with LHON in Wales, where it has been approved for use within the NHS.
From March 2021, all patients being seen in a tertiary referral clinic and diagnosed with LHON by targeted genetic testing were offered treatment with idebenone and commenced on idebenone as part of standard care. For such patients, their clinical records were used to collect demographic and outcome data. Visual acuity was analysed for clinically relevant recovery (CRR), defined as improvement from 'off-chart' to 'on-chart' or 'on-chart' improvement of at least 10 letters.
A total of 12 (67% male) individuals were treated with idebenone 300 mg TDS for LHON for a mean period of 30.2 (±9.9) months. Mean visual acuity at initiation of therapy was 2.22 (±0.32) LogMAR, improving to a peak of 1.12 (±0.77) LogMAR at 27 months. This time point was coincident with the maximum CRR achieved, with 86% demonstrating CRR. At 24 months, CRR was significantly higher when compared to a natural history cohort.
The present cohort demonstrates evidence of CRR in a high proportion of patients reaching 27 months of treatment. Further follow-up and a larger cohort of patients will provide further insight into the real-world efficacy of idebenone in LHON.
Leber遗传性视神经病变（LHON）给患者带来了沉重负担，大多数患者的视力并未出现显著的自发改善。艾地苯醌作为一种治疗方法最近得到验证，为威尔士的LHON患者提供了一些获益途径，在那里它已被批准在国民健康服务体系（NHS）中使用。
从2021年3月起，在三级转诊诊所就诊并通过靶向基因检测诊断为LHON的所有患者都接受了艾地苯醌治疗，并开始将其作为标准治疗的一部分。对于这些患者，其临床记录用于收集人口统计学和结局数据。分析视力以确定临床相关恢复（CRR），定义为从“视力表外”改善到“视力表上”或“视力表上”至少提高10个字母。
共有12名（67%为男性）个体接受了300 mg每日三次的艾地苯醌治疗LHON，平均治疗时间为30.2（±9.9）个月。治疗开始时的平均视力为2.22（±0.32）LogMAR，在27个月时提高到峰值1.12（±0.77）LogMAR。这个时间点与达到的最大CRR一致，86%的患者表现出CRR。在24个月时，与自然病史队列相比，CRR显著更高。
本队列显示，在接受27个月治疗的高比例患者中有CRR的证据。进一步的随访和更大规模的患者队列将为艾地苯醌在LHON中的实际疗效提供进一步的见解。
