2024 | Enzo Maria Vingolo, Simona Mascolo, Filippo Micciche and Gregorio Manco
Retinitis pigmentosa (RP) is an inherited disease characterized by the progressive death of photoreceptors and retinal pigment epithelium (RPE), leading to vision loss. Despite being the most common type of inherited retinal dystrophy, effective therapies remain elusive. This review focuses on therapeutic approaches, including antioxidant agents, hyperbaric oxygen therapy, stem cell transplantation, and gene therapy. Antioxidant agents like vitamin A palmitate have been studied for their protective effects, but their efficacy is controversial. Hyperbaric oxygen therapy shows promise in improving visual function, but it also has potential side effects. Stem cell therapy, particularly using mesenchymal stem cells (MSCs), has shown safety and some efficacy, but its long-term effectiveness and optimal delivery methods are still under investigation. Gene therapy, especially with adeno-associated virus (AAV) vectors, has emerged as the most promising approach, with the FDA approval of voretigene neparvovec for RPE65-associated RP. However, the heterogeneity of RP mutations and the need for residual photoreceptors limit its broader application. New therapies, such as CRISPR/Cas9 gene editing and optogenetics, are also being explored. The authors emphasize the need for continued research to develop comprehensive and effective treatments for RP.Retinitis pigmentosa (RP) is an inherited disease characterized by the progressive death of photoreceptors and retinal pigment epithelium (RPE), leading to vision loss. Despite being the most common type of inherited retinal dystrophy, effective therapies remain elusive. This review focuses on therapeutic approaches, including antioxidant agents, hyperbaric oxygen therapy, stem cell transplantation, and gene therapy. Antioxidant agents like vitamin A palmitate have been studied for their protective effects, but their efficacy is controversial. Hyperbaric oxygen therapy shows promise in improving visual function, but it also has potential side effects. Stem cell therapy, particularly using mesenchymal stem cells (MSCs), has shown safety and some efficacy, but its long-term effectiveness and optimal delivery methods are still under investigation. Gene therapy, especially with adeno-associated virus (AAV) vectors, has emerged as the most promising approach, with the FDA approval of voretigene neparvovec for RPE65-associated RP. However, the heterogeneity of RP mutations and the need for residual photoreceptors limit its broader application. New therapies, such as CRISPR/Cas9 gene editing and optogenetics, are also being explored. The authors emphasize the need for continued research to develop comprehensive and effective treatments for RP.