Current advances in gene therapy for retinitis pigmentosa using adeno-associated virus (review)
Background: Retinitis pigmentosa is a group of inherited retinal disorders characterized by progressive degeneration of photoreceptors and the retinal pigment epithelium. This leads to irreversible vision loss, significantly reducing patients' quality of life. Current treatment methods, including vitamin therapy, antioxidants, and electronic implant devices, do not halt disease progression but only partially compensate for its consequences. Therefore, developing effective therapies targeting the underlying causes of the disease remains a pressing challenge in modern ophthalmology. Gene therapy using viral vectors presents new opportunities for treating hereditary degenerative retinal diseases. The aim of the study:To review current approaches to treating retinitis pigmentosa through gene therapy, analyze the efficiency and safety of therapeutic gene delivery to retinal cells, and assess future research prospects in this field. Materials and methods: A review of scientific studies and clinical trials was conducted, focusing on the use of adeno-associated viruses for delivering genetic material to retinal cells. Sources were selected from peer-reviewed literature databases using keywords related to gene therapy for retinitis pigmentosa. Results: The effectiveness of gene therapy for retinitis pigmentosa depends on the AAV vector serotype, the target cell type, and the method of administration. The most stable gene expression for RHO, RPGR, RP2, PDE6α, and PDE6β is achieved using AAV2/5 and AAV8 serotypes with subretinal injection. For suppressing mutant RHO and its replacement, dual vectors containing shRNA and resistant cDNA are effective, while codon optimization of the RPGRORF15 isoform is necessary for RPGR. In the case of RP2, the use of self-complementary AAV achieved expression in 90% of photoreceptors and restored the structure of the outer nuclear layer; however, high doses led to toxic effects. For PDE6α and PDE6β therapy, not only viral vector delivery but also CRISPR and prime editing systems have shown effectiveness. Conclusion: Gene therapy using adeno-associated viruses is a promising approach for treating hereditary retinal diseases. However, challenges remain regarding the duration of therapeutic effects, potential immune responses, and the limited carrying capacity of viral vectors. Future research aims to enhance delivery methods, improve therapeutic gene expression efficiency, and develop new strategies for treating a wide range of inherited retinopathies
Khakimov AR, Musina LA, Lebedeva AI, et al. Current advances in gene therapy for
retinitis pigmentosa using adeno-associated virus (review). Research Results in Biomedicine.
2026;12(1):5-23. Russian. DOI: 10.18413/2658-6533-2026-12-1-0-1
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Хакимов АР, Мусина ЛА, Лебедева АИ, и др. Современные достижения генной терапии пигментного ретинита с применением аденоассоциированного вируса (обзор). Научные результаты биомедицинских исследований. 2026;12(1):5-23. [Khakimov AR, Musina LA, Lebedeva AI, et al. Current advances in gene therapy for retinitis pigmentosa using adeno-associated virus (review). Research Results in Biomedicine. 2026;12(1):5-23. Russian]. DOI: 10.18413/2658- 6533-2026-12-1-0-1