PDF(Pubmed)
Abstract：
Our study evaluated the morphological and functional outcomes, and the side effects, of voretigene neparvovec (VN) gene therapy for RPE65-mediated inherited retinal dystrophies (IRDs) in 12 eyes (six patients) at the Oxford Eye Hospital with a mean follow-up duration of 8.2 (range 1-12) months. All patients reported a subjective vision improvement 1 month after gene therapy. Best-corrected visual acuity (BCVA) remained stable (baseline: 1.28 (±0.71) vs. last follow-up: 1.46 (±0.60); p = 0.25). Average white Full-Field Stimulus Testing (FST) showed a trend towards improvement (baseline: -4.41 (±10.62) dB vs. last follow-up: -11.98 (±13.83) dB; p = 0.18). No changes in central retinal thickness or macular volume were observed. The side effects included mild intraocular inflammation (two eyes) and cataracts (four eyes). Retinal atrophy occurred in 10 eyes (eight mild, two severe) but did not impact FST measurements during the follow-up period. Increased intraocular pressure (IOP) was noted in three patients (six eyes); four eyes (two patients) required glaucoma surgery. The overall safety and effectiveness of VN treatment in our cohort align with previous VN clinical trials, except for the higher occurrence of retinal atrophy and increased IOP in our cohort. This suggests that raised IOP and retinal atrophy may be more common than previously reported.
摘要：
我们的研究评估了形态和功能结果，以及副作用，在牛津眼科医院对12只眼(6例患者)的RPE65介导的遗传性视网膜营养不良(IRD)进行voretigeneneparvovec(VN)基因治疗,平均随访时间为8.2(1-12个月).所有患者在基因治疗后1个月报告主观视力改善。最佳矫正视力（BCVA）保持稳定（基线：1.28（±0.71）最后一次随访：1.46（±0.60）；p=0.25）。平均白色全场刺激测试（FST）显示出改善的趋势（基线：-4.41（±10.62）dB与最后一次随访：-11.98（±13.83）dB；p=0.18）。未观察到中央视网膜厚度或黄斑体积的变化。副作用包括轻度眼内炎症(两只眼睛)和白内障(四只眼睛)。视网膜萎缩发生在10只眼（8只轻度，两次严重），但在随访期间不影响FST测量。3例患者（6只眼）的眼内压（IOP）升高；4只眼（2例）需要青光眼手术。我们队列中VN治疗的总体安全性和有效性与之前的VN临床试验一致，除了我们队列中视网膜萎缩的发生率较高和IOP升高。这表明升高的眼压和视网膜萎缩可能比以前报道的更常见。
