Retinal Organoids derived from AIPL1-LCA Patient iPSCs Maintain Retinal Cytoarchitecture under Reduced AIPL1 Levels

In this study, we generated three-dimensional (3D) retinal organoids (ROs) from induced pluripotent stem cells (iPSCs) derived from an LCA4 patient carrying a Cys89Arg mutation in AIPL1. This study aimed to (i) explore whether the patient iPSC-derived ROs recapitulate LCA4 disease phenotype, and (ii) generate a clinically relevant resource to investigate the molecular mechanism of disease and safely test novel therapies for LCA4 in vitro. Overall design: Two control iPSC lines and patient's iPSCs were subjected to the differentiation protocol and 15-20 organoids were pooled from 3-5 independent differentiation experiments at days (D) 25, 60, 88 and 123.