Review reveals CRISPR-Cas9 gene therapy improves visual outcomes in inherited eye disorders, suggesting potential for curative treatment.
Stargardt’s disease (STGD1), retinitis pigmentosa (RP), and Leber’s congenital amaurosis (LCA) inherited eye conditions are among the main causes of blindness and visual impairment. The primary cause of these diseases, which lead to gradual vision loss, are genetic mutations affecting retinal cells. Gene-editing technologies, especially the CRISPR-Cas9 system, are emerging as promising ways to correct harmful genetic mutations. This review focuses on how effectively CRISPR-Cas9 can be used to treat certain inherited eye conditions. In experiments with patient-derived human induced pluripotent stem cells (hiPSCs), researchers were able to fix STGD1 mutations in the ABCA4 gene using CRISPR-Cas9. The corrected cells retained their ability to differentiate into different cell types and showed minimal off-target effects. This suggests the approach could offer a safe and precise way of treating these conditions. In RP, CRISPR-Cas9 was used to target the RPGR gene in mice models, successfully preserving the shape and function of the photoreceptor cells. The CEP290 mutation in LCA10 was corrected in human patients using the CRISPR-Cas9 based EDIT-101 in the BRILLIANCE clinical trial, which demonstrated a notable improvement in visual outcomes with minimal adverse effects. Even though the results so far are promising, challenges remain, including long-term safety, the administration of these treatments, and the risk of unintended effects. This review emphasizes the need for further research and clinical trials to improve these therapies. It also highlights the exciting potential of CRISPR-Cas9 as a curative treatment for inherited retinal disorders.
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Pisack et al. (2025) studied this question.
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