Lee Yoo Jin, Jo Dong Hyun
Department of Medicine, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Department of Anatomy and Cell Biology, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Stem Cell Rev Rep. 2025 Jan;21(1):167-197. doi: 10.1007/s12015-024-10802-7. Epub 2024 Oct 18.
Currently, most inherited retinal diseases lack curative interventions, and available treatment modalities are constrained to symptomatic approaches. Retinal organoid technology has emerged as a method for treating inherited retinal diseases, with growing academic interest in recent years. The purpose of this review was to systematically organize the current protocols for generating retinal organoids using induced pluripotent stem cells from patients with inherited retinal disease and to investigate the application of retinal organoids in inherited retinal disease research.
Data were collected from the PubMed, Scopus, and Web of Science databases using a keyword search. The main search term used was "retinal organoid," accompanied by secondary keywords such as "optic cup," "three-dimensional," and "self-organizing." The final search was conducted on October 2, 2024.
Of the 2,129 studies retrieved, 130 were included in the qualitative synthesis. The protocols for the generation of retinal organoids in inherited retinal disease research use five major approaches, categorized into 3D and a combination of 2D/3D approaches, implemented with modifications. Disease phenotypes have been successfully reproduced via the generation of retinal organoids from the induced pluripotent stem cells of individuals with inherited retinal diseases, facilitating the progression of research into novel therapeutic developments. Cells have been obtained from retinal organoids for cell therapy, and progress toward their potential integration into clinical practice is underway. Considering their potential applications, retinal organoid technology has shown promise across various domains.
In this systematic review, we organized protocols for generating retinal organoids using induced pluripotent stem cells from patients with inherited retinal diseases. Retinal organoid technology has various applications including disease modeling, screening for novel therapies, and cell replacement therapy. Further advancements would make this technology a clinically significant tool for patients with inherited retinal diseases.
目前，大多数遗传性视网膜疾病缺乏治愈性干预措施，现有的治疗方式仅限于对症治疗。视网膜类器官技术已成为治疗遗传性视网膜疾病的一种方法，近年来受到越来越多的学术关注。本综述的目的是系统整理目前使用遗传性视网膜疾病患者的诱导多能干细胞生成视网膜类器官的方案，并探讨视网膜类器官在遗传性视网膜疾病研究中的应用。
使用关键词搜索从PubMed、Scopus和Web of Science数据库收集数据。主要搜索词为“视网膜类器官”，并伴有“视杯”“三维”“自组织”等次要关键词。最终搜索于2024年10月2日进行。
在检索到的2129项研究中，130项被纳入定性综合分析。遗传性视网膜疾病研究中生成视网膜类器官的方案采用了五种主要方法，分为3D方法以及2D/3D方法的组合，并进行了改进。通过从患有遗传性视网膜疾病个体的诱导多能干细胞生成视网膜类器官，已成功再现疾病表型，促进了新型治疗方法研发的研究进展。已从视网膜类器官中获取细胞用于细胞治疗，并且正在朝着将其潜在整合到临床实践的方向取得进展。考虑到其潜在应用，视网膜类器官技术在各个领域都显示出了前景。
在本系统综述中，我们整理了使用遗传性视网膜疾病患者的诱导多能干细胞生成视网膜类器官的方案。视网膜类器官技术有多种应用，包括疾病建模、新型疗法筛选和细胞替代治疗。进一步的进展将使该技术成为遗传性视网膜疾病患者具有临床意义的工具。
