Rotterdam Eye Hospital, Rotterdam, The Netherlands.
Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Acta Ophthalmol. 2022 Sep;100(6):700-706. doi: 10.1111/aos.15153. Epub 2022 Apr 8.
The purpose of the study was to present results from a national Dutch cohort of patients with Leber's Hereditary Optic Neuropathy (LHON) treated with idebenone.
The multicentre, open-label, retrospective evaluation of the long-term outcome of idebenone treatment of Dutch LHON patients on visual function and on thickness of the retinal ganglion cell layer. Patients included in the analysis had a confirmed mutation in their mitochondrial DNA encoding either of the seven subunits of complex I, had a reported loss of vision in at least one eye and had a follow-up of more than 6 months after their treatment was started. Control visits involved routine clinical examinations of visual function and retinal structure at (1) the start of treatment, (2) nadir (time of lowest visual acuity), (3) the time of recovery (if any), (4) the time of termination of treatment and (5) more than 6 months after termination of the treatment.
Data from 72 patients were analysed. Treatment duration was 23.8 ± 14.4 (mean ± SD) months. A positive response, that is either a clinically relevant recovery (CRR) or a clinically relevant stabilization (CRS), occurred in 53% and 11% of the patients, respectively. The magnitude of CRR was 0.41 ± 1.54 logMAR. CRR of visual acuity is associated with recovery of colour discrimination. The thickness of both the ganglion cell complex (GCC) and the retinal nerve fibre layer (RNFL) is irreversibly reduced.
Our results confirm that idebenone may help to restore or maintain visual function. Whether this effect will persist is still unknown. Thinning of retinal neural tissue appears to be permanent.
本研究旨在展示接受依地苯醌治疗的荷兰莱伯遗传性视神经病变（LHON）患者的全国性队列研究结果。
本多中心、开放性、回顾性研究评估了依地苯醌治疗荷兰 LHON 患者的长期疗效，主要终点为视力和视网膜神经节细胞层（ganglion cell layer，GCL）厚度。纳入分析的患者均携带线粒体 DNA 编码复合体 I 的七个亚基之一的明确突变，至少有一只眼视力丧失，并在治疗开始后随访时间超过 6 个月。随访时进行常规临床检查，评估视力和视网膜结构，包括（1）治疗开始时、（2）视力最低时（nadir）、（3）恢复时（如有）、（4）治疗结束时、（5）治疗结束后 6 个月以上。
共分析了 72 例患者的数据。治疗持续时间为 23.8±14.4（均数±标准差）个月。53%和 11%的患者分别出现了有临床意义的恢复（clinically relevant recovery，CRR）和有临床意义的稳定（clinically relevant stabilization，CRS）。CRR 的幅度为 0.41±1.54 logMAR。视力的 CRR 与色觉恢复相关。GCL 和视网膜神经纤维层（retinal nerve fibre layer，RNFL）的厚度均不可逆地降低。
我们的结果证实，依地苯醌可能有助于恢复或维持视力。这种效果是否会持续尚不清楚。视网膜神经组织变薄似乎是永久性的。
