Stargardt病,遗传性视网膜疾病中最常见的一种,影响全世界的个人。主要原因是ABCA4基因突变,导致视网膜色素上皮(RPE)中有毒副产物的积累和随后的感光细胞变性。在过去的几年里,对Stargardt病的研究取得了显著进展,专注于临床和分子遗传学。最近的研究探索了各种创新的治疗方法,包括基因疗法,干细胞疗法,和药物干预。基因疗法显示出了希望,特别是能够将ABCA4基因递送至视网膜细胞的腺相关病毒(AAV)载体。然而,由于基因的大尺寸,挑战仍然存在。干细胞疗法旨在取代退化的RPE和感光细胞,几项临床试验证明了安全性和初步疗效。药理学方法侧重于减少有毒副产物的积累和调节视觉周期。精准医学,靶向特定的基因突变和途径,变得越来越重要。新技术,例如成簇的规则间隔回文重复(CRISPR)/Cas9提供了直接纠正遗传缺陷的潜力。这篇综述旨在综合了解和治疗Stargardt病的最新进展。通过强调基因疗法的突破,干细胞治疗,和新的药理策略,它提供了新兴治疗方案的全面概述。
Stargardt disease, one of the most common forms of inherited retinal diseases, affects individuals worldwide. The primary cause is mutations in the ABCA4 gene, leading to the accumulation of toxic byproducts in the retinal pigment epithelium (RPE) and subsequent photoreceptor cell degeneration. Over the past few years, research on Stargardt disease has advanced significantly, focusing on clinical and molecular genetics. Recent studies have explored various innovative therapeutic approaches, including gene therapy, stem cell therapy, and pharmacological interventions. Gene therapy has shown promise, particularly with adeno-associated viral (AAV) vectors capable of delivering the ABCA4 gene to retinal cells. However, challenges remain due to the gene\'s large size. Stem cell therapy aims to replace degenerated RPE and photoreceptor cells, with several clinical trials demonstrating safety and preliminary efficacy. Pharmacological approaches focus on reducing toxic byproduct accumulation and modulating the visual cycle. Precision medicine, targeting specific genetic mutations and pathways, is becoming increasingly important. Novel techniques such as clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 offer potential for directly correcting genetic defects. This
review aims to synthesize recent advancements in understanding and treating Stargardt disease. By highlighting breakthroughs in genetic therapies, stem cell treatments, and novel pharmacological strategies, it provides a comprehensive overview of emerging therapeutic options.