Irigoyen Cristina, Amenabar Alonso Asier, Sanchez-Molina Jorge, Rodríguez-Hidalgo María, Lara-López Araceli, Ruiz-Ederra Javier
Department of Ophthalmology, Donostia University Hospital (HUD), 20014 Donostia San-Sebastián, Spain.
Biodonostia Health Research Institute, 20014 Donostia-San Sebastián, Spain.
J Clin Med. 2022 Aug 12;11(16):4717. doi: 10.3390/jcm11164717.
Inherited retinal dystrophies (IRDs) affect an estimated 1 in every 2000 people, this corresponding to nearly 2 million cases worldwide. Currently, 270 genes have been associated with IRDs, most of them altering the function of photoreceptors and retinal pigment epithelium. Gene therapy has been proposed as a potential tool for improving visual function in these patients. Clinical trials in animal models and humans have been successful in various types of IRDs. Recently, voretigene neparvovec (Luxturna) has been approved by the US Food and Drug Administration for the treatment of biallelic mutations in the RPE65 gene. The current state of the art in gene therapy involves the delivery of various types of viral vectors into the subretinal space to effectively transduce diseased photoreceptors and retinal pigment epithelium. For this, subretinal injection is becoming increasingly popular among researchers and clinicians. To date, several approaches for subretinal injection have been described in the scientific literature, all of them effective in accessing the subretinal space. The growth and development of gene therapy give rise to the need for a standardized procedure for subretinal injection that ensures the efficacy and safety of this new approach to drug delivery. The goal of this review is to offer an insight into the current subretinal injection techniques and understand the key factors in the success of this procedure.
遗传性视网膜营养不良（IRD）估计每2000人中就有1人受影响，全球范围内这相当于近200万例病例。目前，已有270个基因与IRD相关，其中大多数基因会改变光感受器和视网膜色素上皮的功能。基因治疗已被提议作为改善这些患者视觉功能的潜在工具。在动物模型和人类中进行的临床试验在各种类型的IRD中均取得了成功。最近，voretigene neparvovec（Luxturna）已获得美国食品药品监督管理局批准，用于治疗RPE65基因的双等位基因突变。基因治疗的当前技术水平涉及将各种类型的病毒载体递送至视网膜下间隙，以有效转导患病的光感受器和视网膜色素上皮。为此，视网膜下注射在研究人员和临床医生中越来越受欢迎。迄今为止，科学文献中已描述了几种视网膜下注射方法，所有这些方法都能有效进入视网膜下间隙。基因治疗的发展引发了对标准化视网膜下注射程序的需求，该程序可确保这种新的药物递送方法的有效性和安全性。本综述的目的是深入了解当前的视网膜下注射技术，并了解该程序成功的关键因素。
