MOLECULAR BASIS AND CURRENT POSSIBILITIES OF VECTOR THERAPY FOR RETINITIS PIGMENTOSA

Abstract

Objective. The aim of this study is to conduct a systematic analysis of current approaches to the treatment of retinitis pigmentosa, with an emphasis on the use of viral vectors, particularly AAV, in gene therapy.

Materials and Methods. A systematic review was conducted of publications indexed in PubMed, Web of Science, Scopus, CyberLeninka, and eLIBRARY databases. The review included studies on animal models, molecular genetic reviews, and clinical trials addressing the efficiency of therapeutic gene delivery, immune response, vector limitations, and potential clinical outcomes. Descriptive and comparative analysis methods were used to identify correlations between mutation type, therapeutic strategy, and treatment outcomes.

Results. The review showed that AAV vectors demonstrate the highest efficacy among vector platforms due to their strong tropism for photoreceptors and good biocompatibility. The most extensively studied targets include the RPGR, RHO, MERTK, TULP1, and CNGB1 genes, with the greatest progress achieved in the treatment of X-linked retinitis pigmentosa and autosomal recessive forms. Despite encouraging results, treatment efficacy depends on the disease stage, individual mutations, and the ability of the vector to overcome insertion capacity limitations. Approaches aimed at neuroprotection, cell therapy, and optogenetics in the late stages of degeneration are also considered.

Conclusions. Personalized selection of vector-based gene therapy for retinitis pigmentosa, based on the patient’s genetic profile, represents a key direction in the development of ophthalmic genetics. The use of AAV vectors shows strong potential; however, further improvement is required in terms of systemic delivery, immune modulation, and targeted expression. The findings highlight the need for an interdisciplinary approach integrating genetics, molecular biology, and ophthalmological practice.