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May 31, 2024Stem Cell Research & TherapyOpen Access

Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy

Chunwen Duan Chengcheng Ding Xihao Sun Shengru Mao Yuqin Liang Xinyu Liu Xiaoyan Ding Jiansu Chen Shibo Tang

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Abstract

X-linked juvenile retinoschisis (XLRS) is an inherited disease caused by RS1 gene mutation, which leads to retinal splitting and visual impairment. The mechanism of RS1-associated retinal degeneration is not fully understood. Besides, animal models of XLRS have limitations in the study of XLRS. Here, we used human induced pluripotent stem cell (hiPSC)-derived retinal organoids (ROs) to investigate the disease mechanisms and potential treatments for XLRS.

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Cite This Study

Duan et al. (2024) studied this question.

synapsesocial.com/papers/68e6761db6db6435876000c7 https://doi.org/10.1186/s13287-024-03767-4

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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