目前，大多数遗传性视网膜疾病缺乏治疗干预措施，可用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，近年来学术界的兴趣日益浓厚。本综述的目的是系统地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。数据收集自PubMed、Scopus、和使用关键字搜索的 Web of Science 数据库。使用的主要搜索词是“视网膜类器官”，伴随着“视杯”、“三维”和“自组织”等次要关键词。最终检索于 2024 年 10 月 2 日进行。在检索到的 2,129 项研究中，130 项纳入定性综合。在遗传性视网膜疾病研究中生成视网膜类器官的方案使用五种主要方法，分为 3D 和 2D/3D 方法的组合，并进行修改。通过从患有遗传性视网膜疾病的个体的诱导多能干细胞中生成视网膜类器官，已经成功地再现了疾病表型，从而促进了新治疗开发的研究进展。细胞已从视网膜类器官中获得用于细胞治疗，并且其潜在整合到临床实践中的进展正在进行中。考虑到其潜在的应用，视网膜类器官技术在各个领域都显示出了前景。在这篇系统综述中，我们组织了使用来自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。视网膜类器官技术具有多种应用，包括疾病建模、新疗法筛选和细胞替代疗法。进一步的进步将使这项技术成为遗传性视网膜疾病患者的临床重要工具。© 2024。作者。

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.© 2024. The Author(s).