UCL Institute of Ophthalmology, London, UK.
Adv Exp Med Biol. 2019;1185:97-101. doi: 10.1007/978-3-030-27378-1_16.
Leber congenital amaurosis (LCA) caused by AIPL1 mutations is one of the most severe forms of inherited retinal degeneration (IRD). The rapid and extensive photoreceptor degeneration challenges the development of potential treatments. Nevertheless, preclinical studies show that both gene augmentation and photoreceptor transplantation can regenerate and restore retinal function in animal models of AIPL1-associated LCA. However, questions regarding long-term benefit and safety still remain as these therapies advance towards clinical application. Ground-breaking advances in stem cell technology and genome editing are examples of alternative therapeutic approaches and address some of the limitations associated with previous methods. The continuous development of these cutting-edge biotechnologies paves the way towards a bright future not only for AIPL1-associated LCA patients but also other forms of IRD.
由 AIPL1 突变引起的莱伯先天性黑蒙（LCA）是最严重的遗传性视网膜变性（IRD）之一。快速广泛的光感受器变性给潜在治疗方法的发展带来了挑战。尽管如此，临床前研究表明，基因增强和光感受器移植都可以在 AIPL1 相关 LCA 的动物模型中再生和恢复视网膜功能。然而，随着这些疗法向临床应用推进，关于长期益处和安全性的问题仍然存在。干细胞技术和基因组编辑的突破性进展是替代治疗方法的例子，解决了以前方法相关的一些局限性。这些前沿生物技术的不断发展不仅为 AIPL1 相关 LCA 患者，也为其他形式的 IRD 铺平了光明的未来。
