Murati Calderón Ricardo A, Emanuelli Andres, Izquierdo Natalio
Department of Ophthalmology, School of Medicine, University of Puerto Rico, San Juan 00936-5067, Puerto Rico.
Emanuelli Research and Development, Retina Care, Arecibo 00612-4368, Puerto Rico.
Medicina (Kaunas). 2025 Jun 29;61(7):1179. doi: 10.3390/medicina61071179.
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration and vision loss. While current management is largely supportive-relying on visual aids, orientation training, and nutritional supplementation-these interventions offer only symptomatic relief and do not halt disease progression. Advances in molecular genetics have led to the development of targeted treatments, including gene replacement therapy, RNA-based therapies, and CRISPR/Cas9 gene editing, offering promising strategies for disease modification. The approval of voretigene neparvovec for -associated RP marked a milestone in gene therapy, while ongoing trials targeting mutations in , , and are expanding therapeutic options. Optogenetic therapy and stem cell transplantation represent additional strategies, particularly for patients with advanced disease. Challenges persist in delivery efficiency, immune responses, and treating large or dominant-negative mutations. Non-viral vectors, nanoparticle systems, and artificial intelligence-guided diagnostics are being explored to address these limitations and support personalized care. This review summarizes the current and emerging therapeutic landscape for RP, highlighting the shift toward precision medicine and the need for continued innovation to overcome genetic and phenotypic variability.
视网膜色素变性（RP）是一组遗传性视网膜营养不良的异质性疾病，其特征是进行性光感受器退化和视力丧失。虽然目前的治疗主要是支持性的——依赖视觉辅助工具、定向训练和营养补充——但这些干预措施只能缓解症状，无法阻止疾病进展。分子遗传学的进展导致了靶向治疗的发展，包括基因替代疗法、基于RNA的疗法和CRISPR/Cas9基因编辑，为疾病改善提供了有前景的策略。voretigene neparvovec获批用于相关RP标志着基因治疗的一个里程碑，而针对、和突变的正在进行的试验正在扩大治疗选择。光遗传学疗法和干细胞移植是另外的策略，特别是对于晚期疾病患者。在递送效率、免疫反应以及治疗大型或显性负性突变方面仍然存在挑战。正在探索非病毒载体、纳米颗粒系统和人工智能引导的诊断方法来解决这些限制并支持个性化医疗。本综述总结了RP目前和新兴的治疗前景，并强调了向精准医学的转变以及持续创新以克服基因和表型变异性的必要性。
