Gene and Cellular Therapies for Retinal Diseases

Abstract

Hereditary retinal diseases constitute a heterogeneous group of genetic disorders that lead to progressive vision loss, often resulting in blindness. Given the complexity and severity of these diseases, biomedical research has been intensely dedicated to the development of new therapies, with emphasis on gene and cell therapies. These innovative therapeutic approaches aim to correct the genetic defects underlying retinal diseases, offering the possibility of restoring or preserving vision in patients with these conditions. Objective: to summarize the available scientific evidence on the application of gene and cell therapies in the treatment of retinal diseases. Methodology: A systematic review of the literature was carried out, following the recommendations of the PRISMA checklist, with the aim of identifying studies that investigated the application of gene and cell therapies in retinal diseases. The PubMed, Scielo and Web of Science databases were searched using the following descriptors: "gene therapy", "cell therapy", "retinal diseases", "inherited retinal diseases" and "ocular gene therapy". The search was restricted to articles published in the last 10 years. The studies were selected based on the following inclusion criteria: clinical studies in humans, in animals or in vitro, which investigated the application of gene or cell therapies in inherited retinal diseases. Review studies, case reports and studies that did not meet the inclusion criteria were excluded. Results: The literature review identified 15 studies. The results of these studies demonstrated that these therapeutic approaches have great potential for the treatment of inherited retinal diseases, with the possibility of restoring or preserving vision in patients with these conditions. The main topics addressed in the studies included the identification of novel genes and mutations associated with retinal diseases, the development of efficient viral vectors for the delivery of therapeutic genes, the engineering of retinal cells for cell therapy, and the evaluation of the safety and efficacy of these therapies in animal models and in human clinical studies. Conclusion: Gene and cell therapies represent a significant advance in the treatment of inherited retinal diseases. Although there are still challenges to be overcome, such as the identification of new therapeutic targets, the development of safe and efficient vectors, and the long-term evaluation of the safety and efficacy of these therapies, the results obtained to date are promising. Continued research in this area is essential for the development of new, more effective and personalized therapies for the treatment of patients with retinal diseases, offering the hope of restoring vision and significantly improving the quality of life of these individuals.