目的:本研究的目的是介绍荷兰国家Leber遗传性视神经病变(LHON)患者队列的结果。
方法:多中心,开放标签,回顾性评价艾地苯醌治疗荷兰LHON患者对视功能和视网膜神经节细胞层厚度的长期疗效。分析中包括的患者在其编码复合物I的七个亚基之一的线粒体DNA中有确认的突变,至少有一只眼睛报告视力丧失,并且在开始治疗后随访超过6个月。对照访视包括(1)治疗开始时的视功能和视网膜结构的常规临床检查,(2)最低点(最低视力时间),(3)恢复时间(如有),(4)终止治疗的时间和(5)终止治疗后6个月以上。
结果:分析了72例患者的数据。治疗时间为23.8±14.4(平均±SD)个月。积极的回应,即临床相关恢复(CRR)或临床相关稳定(CRS),发生在53%和11%的患者中,分别。CRR的大小为0.41±1.54logMAR。视力的CRR与颜色辨别的恢复有关。神经节细胞复合体(GCC)和视网膜神经纤维层(RNFL)的厚度都不可逆地减小。
结论:我们的结果证实艾地苯醌可能有助于恢复或维持视觉功能。这种影响是否会持续仍然未知。视网膜神经组织的变薄似乎是永久性的。
OBJECTIVE: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.