Jalil Assad, Ferrara Mariantonia, Lippera Myrta, Parry Neil, Black Graeme C, Banderas Sandra, Ashworth Jane, Biswas Sus, Hall Georgina, Gray Jane, Newman William, Ivanova Tsveta
Manchester Royal Eye Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy.
Eye (Lond). 2025 May;39(7):1356-1363. doi: 10.1038/s41433-025-03637-0. Epub 2025 Feb 3.
To present functional and anatomical outcomes of subretinal therapy with Voretigene Neparvovec (VN) in patients treated in one of the four specialist UK gene therapy centres.
Single-centre, retrospective case series of patients affected by an inherited retinal dystrophy (IRD) caused by a pathogenic biallelic RPE65 mutation and treated with VN. Complete ophthalmic examination was planned preoperatively and 2, 4 and 8 weeks and 3, 6, 12, 18 and 24 months after surgery, and included visual acuity (VA) assessment (normal and low luminance), colour vision, contrast sensitivity, dark-adapted full-field stimulus threshold, macular optical coherence tomography (OCT) and fundus autofluorescence.
Fourteen eyes of 8 patients were included with a mean follow-up of 26 months. Mean final VA improved by 2 lines, and improvements were noted in most other functional tests. Central retina thickness (CRT) remained fairly stable in the majority of patients, whereas 2 eyes experienced a reduction >30 μm. The status of ellipsoid band and external limiting membrane remained stable in all patients, except one. Peripapillary atrophy (PPA) was present in 5 eyes of 3 patients at the baseline; postoperative progression was noted in both eyes of one patient. No patient developed new PPA or chorioretinal atrophy (CRA) involving the macular area after treatment. Five eyes of 3 patients developed CRA at the retinotomy site, that progressed in 3 of them.
Our study confirmed the effectiveness of subretinal VN therapy in terms of improvement of visual function. CRA was confirmed as a common postoperative complication, with limited functional impact.
介绍在英国四个专业基因治疗中心之一接受治疗的患者中，使用维替泊芬基因疗法（VN）进行视网膜下治疗的功能和解剖学结果。
对因致病性双等位基因RPE65突变导致遗传性视网膜营养不良（IRD）并接受VN治疗的患者进行单中心回顾性病例系列研究。术前、术后2周、4周、8周以及3个月、6个月、12个月、18个月和24个月计划进行全面眼科检查，包括视力（VA）评估（正常和低亮度）、色觉、对比敏感度、暗适应全视野刺激阈值、黄斑光学相干断层扫描（OCT）和眼底自发荧光。
纳入8例患者的14只眼，平均随访26个月。平均最终视力提高了2行，并且在大多数其他功能测试中都有改善。大多数患者的中央视网膜厚度（CRT）保持相当稳定，而2只眼的CRT减少超过30μm。除1例患者外，所有患者的椭圆体带和外界膜状态保持稳定。3例患者的5只眼在基线时存在视盘旁萎缩（PPA）；1例患者的双眼术后出现进展。治疗后，没有患者出现新的涉及黄斑区的PPA或脉络膜视网膜萎缩（CRA）。3例患者的5只眼在视网膜切开部位出现CRA，其中3只眼病情进展。
我们的研究证实了视网膜下VN治疗在改善视觉功能方面的有效性。CRA被确认为常见的术后并发症，对功能的影响有限。
