Retinitis Pigmentosa: From Genetic Insights to Innovative Therapeutic Approaches-A Literature Review.

Ricardo A Murati Calderón, Andres Emanuelli, Natalio Izquierdo

Journal: Medicina (Kaunas, Lithuania) 2025;61(7):

PMID: 40731809

Abstract

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.

Address: Department of Ophthalmology, School of Medicine, University of Puerto Rico, San Juan 00936-5067, Puerto Rico.; 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.; Department of Surgery, University of Puerto Rico, Medical Sciences Campus, San Juan 00936-5067, Puerto Rico.
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