Department of Functional Sciences, "Victor Babeș" University of Medicine and Pharmacy Timișoara, Eftimie Murgu Square No. 2, 300041 Timișoara, Romania.
Discipline of Anatomy and Embriology, Medicine Faculty, Vasile Goldis Western University of Arad, Revolution Boulevard 94, 310025 Arad, Romania.
Int J Mol Sci. 2024 Aug 14;25(16):8859. doi: 10.3390/ijms25168859.
Stargardt disease, one of the most common forms of inherited retinal diseases, affects individuals worldwide. The primary cause is mutations in the 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 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.
斯特格眼病是最常见的遗传性视网膜疾病之一，影响着全球范围内的个体。其主要病因是 基因突变，导致视网膜色素上皮（RPE）中有毒副产物的积累，进而引发光感受器细胞的变性。在过去的几年中，斯特格眼病的研究取得了显著进展，主要集中在临床和分子遗传学方面。最近的研究探索了各种创新的治疗方法，包括基因治疗、干细胞治疗和药理学干预。基因治疗显示出了希望，特别是使用腺相关病毒（AAV）载体将 基因递送至视网膜细胞。然而，由于该基因较大，仍存在挑战。干细胞治疗旨在替代变性的 RPE 和光感受器细胞，几项临床试验已经证明了其安全性和初步疗效。药理学方法侧重于减少有毒副产物的积累并调节视觉循环。针对特定基因突变和途径的精准医学变得越来越重要。新型技术，如成簇规律间隔短回文重复序列（CRISPR）/Cas9，为直接纠正遗传缺陷提供了可能。本综述旨在综合最近在理解和治疗斯特格眼病方面的进展。通过突出基因治疗、干细胞治疗和新型药理学策略方面的突破，为新兴治疗选择提供了全面的概述。
