Extracellular Vesicle RNAs as Biomarkers for Inherited Retinal Degenerations
Inherited retinal degenerations (IRD) are important causes of vision loss due to progressive dysfunction of photoreceptor and retinal pigment epithelial (RPE) cells of the retina. Pathogenic variants in the PRPF31 gene are among the most common causes of dominant IRD. In a recent study, published in Molecular Therapy: Methods & Clinical Development, researchers in the Ocular Genomics Institute (OGI) at Mass Eye and Ear demonstrated that extracellular vesicles (EVs) released from PRPF31 mutant RPE cells carry RNA cargo that mirrors the molecular state of their originating cells. Their findings show that the RNA profiles of the EVs from the mutant cells capture disease-induced changes in RPE differentiation and function, highlighting their potential as circulating biomarkers for RP. This research paves the way for the development of non-invasive diagnostic tools that could transform disease monitoring and therapeutic assessment.