PDF(Pubmed)
Abstract：
Stargardt disease (STGD) is the most common form of inherited juvenile macular dystrophy and is caused by sequence variants in the ABCA4 gene. Due to its genetic complexity and phenotypic variability, STGD poses significant therapeutic challenges. In the past decade, a lot of progress has been made regarding our understanding of the molecular and clinical aspects of STGD, along with its mechanisms. This has led to the development of new therapies, and there are human clinical trials currently ongoing. This paper evaluates the emergence of pharmacological approaches targeting the visual cycle to mitigate retinal damage, the role of gene therapy in correcting specific genetic defects, and the use of stem cell therapies aimed at retinal regeneration by showcasing the latest clinical trials and precision medicine approaches.
摘要：
Stargardt病（STGD）是遗传性青少年黄斑营养不良的最常见形式，由ABCA4基因的序列变异引起。由于其遗传复杂性和表型变异性,STGD提出了重大的治疗挑战。在过去的十年里,我们对STGD的分子和临床方面的理解已经取得了很多进展，以及它的机制。这导致了新疗法的发展，目前正在进行人体临床试验。本文评估了针对视觉周期的药理学方法的出现，以减轻视网膜损伤，基因治疗在纠正特定遗传缺陷中的作用，以及通过展示最新的临床试验和精准医学方法，针对视网膜再生使用干细胞疗法。
