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Adeno-Associated Virus Vectors in Retinal Gene Therapy: Challenges, Innovations, and Future Directions

Jiayu Huang, Jiajun Li, Xiangzhong Xu, Keran Li

2025Biomolecules12 citationsDOIOpen Access PDF

Abstract

Adeno-associated virus (AAV) vectors have emerged as the leading platform for retinal gene therapy due to their favorable safety profile, low immunogenicity, and ability to mediate long-term transgene expression within the immune-privileged ocular environment. By integrating diverse strategies such as gene augmentation and gene editing, AAV-based therapies have demonstrated considerable promise in treating both inherited and acquired retinal disorders. However, their clinical translation remains limited by several key challenges, including restricted packaging capacity, suboptimal transduction efficiency, the risk of gene therapy-associated uveitis, and broader societal concerns such as disease burden and ethical oversight. This review summarizes recent advances aimed at overcoming these barriers, with a particular focus on delivery route-specific disease applicability, multi-vector systems, and capsid engineering approaches to enhance payload capacity, targeting specificity, and biosafety. By synthesizing these developments, we propose a conceptual and technical framework for a more efficient, safer, and broadly applicable AAV platform to accelerate clinical adoption in retinal gene therapy.

Topics & Concepts

Genetic enhancementBiosafetyGene deliveryTransduction (biophysics)Genome editingTranslational researchComputational biologyVector (molecular biology)ImmunogenicityRetinal degenerationBiologyRisk analysis (engineering)CRISPRBioinformaticsMedicineNeuroscienceGeneImmune systemBiotechnologyImmunologyRetinaGeneticsRecombinant DNABiochemistryVirus-based gene therapy researchRetinal Development and DisordersCRISPR and Genetic Engineering