Institute of Medical Science, University of Toronto, Toronto, ON M5S 3H2, Canada.
Donald K. Johnson Eye Institute, Toronto Western Hospital, Toronto, ON M5T 2S8, Canada.
Genes (Basel). 2024 May 28;15(6):705. doi: 10.3390/genes15060705.
Inherited retinal diseases (IRDs) are a large group of genetically and clinically diverse blinding eye conditions that result in progressive and irreversible photoreceptor degeneration and vision loss. To date, no cures have been found, although strides toward treatments for specific IRDs have been made in recent years. To accelerate treatment discovery, retinal organoids provide an ideal human IRD model. This review aims to give background on the development and importance of retinal organoids for the human-based study of the retina and human retinogenesis and retinal pathologies. From there, we explore retinal pathologies in the context of IRDs and the current landscape of IRD treatment discovery. We discuss the usefulness of retinal organoids in this context (as a patient-derived cell model for IRDs) to precisely understand the pathogenesis and potential mechanisms behind a specific IRD-causing variant of interest. Finally, we discuss the importance and promise of retinal organoids in treatment discovery for IRDs, now and in the future.
遗传性视网膜疾病（IRDs）是一组由遗传和临床多样性引起的致盲性眼病，可导致感光细胞进行性和不可逆转的变性和视力丧失。迄今为止，虽然近年来针对特定 IRD 的治疗方法已经取得了一定进展，但仍未找到治愈方法。为了加速治疗发现，视网膜类器官为人类 IRD 模型提供了理想的选择。本综述旨在介绍视网膜类器官的发展和重要性，用于基于人类的视网膜研究和人类视网膜发生以及视网膜病变。在此基础上，我们探讨了 IRD 背景下的视网膜病变以及当前 IRD 治疗发现的现状。我们讨论了视网膜类器官在这方面的有用性（作为 IRD 的患者来源细胞模型），以精确理解特定 IRD 致病变异体背后的发病机制和潜在机制。最后，我们讨论了视网膜类器官在 IRD 治疗发现中的重要性和前景，无论是现在还是未来。
