Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by PRPF31.AAV gene therapy.

Viral delivery of PRPF31 restores splicing, cellular function, and visual activity in patient-derived retinal cells, even in mature stages, offering a promising therapy for RP11.

• Why it matters: Mutations in PRPF31 disrupt RNA splicing, leading to retinitis pigmentosa type 11, a degenerative eye disease with limited treatment options, highlighting the need for effective gene therapies.
• What they did: Researchers used viral vectors to deliver PRPF31 to patient-derived retinal pigment epithelium (RPE) cells and retinal organoids, assessing splicing activity, cellular pathology, and visual function.
• The result: Gene therapy reversed toxic protein buildup, restored key RPE functions, and improved photoreceptor activity, indicating that correcting splicing alone can enable broad therapeutic benefits across disease stages.