Human Induced Pluripotent Stem Cells in Retinitis Pigmentosa: From Disease Modeling to Therapeutic Approaches

Nanchang University Queen Mary School, Nanchang University, 330019, Nanchang University Jiangxi Medical College(Donghu Campus), 461 Bayi Avenue, Dongjiayao Sub-district, Donghu District, Nanchang, Jiangxi, China

^* Corresponding author: This email address is being protected from spambots. You need JavaScript enabled to view it.

Abstract

Retinitis pigmentosa (RP) is a cohort of heterogeneous retinopathies featuring photoreceptor and RPE regression that ultimately result in blindness. Human iPSC cells and 3D retinal culture (ROs) provide powerful platforms for disease modeling, enabling the recapitulation of genotype-specific pathologies associated with mutations such as PRPF31, CEP290, and RPGR, and allowing causal validation through CRISPR/Cas9-based isogenic controls. Therapeutic strategies for RP are stage-dependent, ranging from gene and neuroprotective approaches in early disease to cell replacement therapies in advanced stages. iPSC-derived products, including RPE cells, photoreceptor precursors, and RO sheets, offer a scalable and mutation-independent cell source. Notably, RO sheet transplantation preserves laminated retinal structure and enables reconstruction of the neural retina. Preclinical studies demonstrate host–graft synaptogenesis and restoration of the light responses, while early clinical data support its safety. Overall, iPSC-based technologies integrate disease modeling with regenerative therapy, with RO sheet transplantation representing a promising strategy for the end-stage RP.