Advances towards personalized therapies for Stargardt disease

Introduction: ABCA4-associated Stargardt disease (STGD1) leads to bilateral central vision loss and is responsible for 12% of inherited retinal disease-related blindness. The lack of approved treatments highlights the urgent need for effective therapies.Areas covered: This review explores personalized treatments for STGD1, focusing on therapeutic alternative splicing, genome editing, and translational read-through technologies. Literature searches as of July 2023 were undertaken via PubMed.Expert opinion: Significant progress has been made in sequencing technology, revealing the complexities of the ABCA4 locus. Comprehensive functional assays can now enable the determination of pathogenicity for ABCA4 variants of uncertain significance. These breakthroughs facilitate the application of gene expression modulation technologies, ushering in a new era of personalized therapeutics. By targeting the ABCA4 gene and manipulating its expression, tailored treatments can address ABCA4-associated STGD1, offering enhanced efficacy and precise interventions based on the individual's genetic profile. These advancements provide hope to those affected by STGD1, with improved treatment options and the potential to prevent vision loss. The convergence of genetic analysis breakthroughs and gene expression modulation technologies revolutionizes our understanding and treatment of inherited disorders, unlocking a promising frontier in personalized therapeutics. This transformative approach to STGD1 holds promise for similar breakthroughs in other inherited conditions.