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Abstract
Retinal organoids derived from children with AIPL1 mutations exhibited undetectable AIPL1 levels and increased cGMP.
- AIPL1 mutations lead to severe vision impairment and rapid photoreceptor degeneration in Leber congenital amaurosis type 4 (LCA4).
- Photoreceptors generated from induced pluripotent stem cells (iPSCs) displayed molecular characteristics consistent with LCA4.
- The translational drug PTC124 showed low efficacy in rescuing full-length AIPL1 in retinal organoids.
- Full restoration of phosphodiesterase 6 (PDE6) activity in photoreceptors and reduction of cGMP levels were not achieved.
- LCA4 retinal organoids serve as a useful model for testing new therapeutic approaches.
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