Aims To report main outcomes and complications following voretigene neparvovec (Luxturna) treatment in paediatric patients. Methods Records of patients under the age of 17 treated by subretinal administration of voretigene neparvovec for confirmed biallelic RPE65 -mediated inherited retinal dystrophy were retrospectively reviewed. Best-corrected visual acuity (BCVA) and data from spectral-domain optical coherence tomography, ultra-wide-field fundus imaging and Goldmann visual field (VF) were analysed at 12 months follow-up. Results 12 eyes of six patients (mean age: 7.8 years) were analysed. No intraoperative complications occurred. BCVA significantly improved at 12-month follow-up (mean LogMAR (logarithm of the minimal angle of resolution) BCVA: 1.0±0.8 at baseline vs 0.6±0.3 at 12 months, p=0.001). Mean central macular thickness and central outer nuclear layer thickness did not change at 12 months follow-up. VF V4e isopter did not show significant changes. Postoperatively complications included: elevated intraocular pressure in two eyes of the same patient, a parafoveal lamellar hole at 3 months post-treatment and atrophy on the injection site observed in all eyes except one, which significantly enlarged during 12 months (p=0.008). Conclusions Most paediatric patients treated by voretigene neparvovec showed a significant increase in visual function at 12 months follow-up. None of the postoperative complications prevented gains in visual function. All data relevant to the study are included in the article or uploaded as supplementary information. NA.

中文翻译：

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Voretigene Neparvovec 基因治疗 RPE65 介导的遗传性视网膜营养不良儿科患者术后 12 个月结局


目的 报道儿科患者 voretigene neparvovec （Luxturna） 治疗后的主要结局和并发症。方法 回顾性回顾性回顾性 17 岁以下患者接受 voretigene neparvovec 视网膜下给药治疗确诊的双等位基因 RPE65 介导的遗传性视网膜营养不良患者的记录。在 12 个月的随访中分析了最佳矫正视力 （BCVA） 和来自光谱域光学相干断层扫描、超宽视野眼底成像和 Goldmann 视野 （VF） 的数据。结果 分析了 6 例患者 （平均年龄： 7.8 岁） 的 12 只眼。未发生术中并发症。BCVA 在 12 个月的随访中显著改善 （平均 LogMAR （最小分辨率角的对数） BCVA：基线时为 1.0±0.8,12 个月时为 0.6±0.3，p = 0.001）。平均中央黄斑厚度和中央外核层厚度在 12 个月的随访中没有变化。VF V4e 等屈光度没有显示出显着变化。术后并发症包括： 同一患者的两只眼眼压升高，治疗后 3 个月出现中心凹旁板层裂孔，除一只眼睛外，所有眼睛均观察到注射部位萎缩，在 12 个月内显着扩大 （p=0.008）。结论 大多数接受 voretigene neparvovec 治疗的儿科患者在 12 个月的随访中显示视觉功能显着增加。没有一个术后并发症阻止视觉功能的改善。与研究相关的所有数据都包含在文章中或作为补充信息上传。那。