Daruich Alejandra, Rateaux Maxence, Batté Emilie, de Vergnes Nathalie, Valleix Sophie, Robert Matthieu P, Bremond Gignac Dominique
Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, 149 Rue de Sèvres, 75015 Paris, France, Paris, France
INSERM, UMRS1138, Team 17, From physiopathology of ocular diseases to clinical development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France, Paris, France.
Br J Ophthalmol. 2025 Jan 28;109(2):281-285. doi: 10.1136/bjo-2024-326221.
To report main outcomes and complications following voretigene neparvovec (Luxturna) treatment in paediatric patients.
Records of patients under the age of 17 treated by subretinal administration of voretigene neparvovec for confirmed biallelic -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.
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).
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.
报告小儿患者接受维替泊芬基因疗法（Luxturna）治疗后的主要疗效和并发症。
回顾性分析17岁以下患者经视网膜下注射维替泊芬基因疗法治疗确诊的双等位基因介导的遗传性视网膜营养不良的记录。在12个月随访时分析最佳矫正视力（BCVA）以及来自光谱域光学相干断层扫描、超广角眼底成像和戈德曼视野（VF）的数据。
分析了6例患者（平均年龄：7.8岁）的12只眼。术中无并发症发生。在12个月随访时BCVA显著改善（平均最小分辨角对数（LogMAR）BCVA：基线时为1.0±0.8，12个月时为0.6±0.3，p = 0.001）。在12个月随访时平均中心黄斑厚度和中心外核层厚度未改变。VF V4e等视线未显示出显著变化。术后并发症包括：同一患者的两只眼中眼压升高，治疗后3个月出现黄斑旁板层裂孔，除一只眼外所有眼中均观察到注射部位萎缩，在12个月期间显著扩大（p = 0.008）。
大多数接受维替泊芬基因疗法治疗的小儿患者在12个月随访时视觉功能显著提高。术后并发症均未妨碍视觉功能的改善。
