PDF(Pubmed)
Abstract：
Retinitis pigmentosa (RP) is a group of genetic disorders characterized by progressive degeneration of photoreceptors and retinal pigment epithelium (RPE) cells. Its main clinical manifestations include night blindness and progressive loss of peripheral vision, making it a prevalent debilitating eye disease that significantly impacts patients\' quality of life. RP exhibits significant phenotypic and genetic heterogeneity. For instance, numerous abnormal genes are implicated in RP, resulting in varying clinical presentations, disease progression rates, and pathological characteristics among different patients. Consequently, gene therapy for RP poses challenges due to these complexities. However, stem cells have garnered considerable attention in the field of RPE therapy since both RPE cells and photoreceptors can be derived from stem cells. In recent years, a large number of animal experiments and clinical trials based on stem cell transplantation attempts, especially cord blood mesenchymal stem cell (MSC) transplantation and bone marrow-derived MSC transplantation, have confirmed that stem cell therapy can effectively and safely improve the outer retinal function of the RP-affected eye. However, stem cell therapy also has certain limitations, such as the fact that RP patients may involve multiple types of retinal cytopathia, which brings great challenges to stem cell transplantation therapy, and further research is needed to solve various problems faced by this approach in the clinic. Through comprehensive analysis of the etiology and histopathological changes associated with RP, this study substantiates the efficacy and safety of stem cell therapy based on rigorous animal experimentation and clinical trials, while also highlighting the existing limitations that warrant further investigation.
摘要：
视网膜色素变性（RP）是一组以光感受器和视网膜色素上皮（RPE）细胞进行性变性为特征的遗传性疾病。其主要临床表现为夜盲症和进行性周围视力丧失,使其成为一种普遍的衰弱性眼病，显著影响患者的生活质量。RP表现出显著的表型和遗传异质性。例如,许多异常基因与RP有关，导致不同的临床表现，疾病进展率，不同患者的病理特征。因此,由于这些复杂性，RP的基因治疗提出了挑战。然而,由于RPE细胞和光感受器都可以来源于干细胞,因此干细胞在RPE治疗领域已经引起了相当大的关注。近年来,基于干细胞移植尝试的大量动物实验和临床试验，尤其是脐带血间充质干细胞（MSC）移植和骨髓来源的MSC移植，已经证实，干细胞治疗可以有效和安全地改善受RP影响的眼睛的外部视网膜功能。然而,干细胞治疗也有一定的局限性,例如RP患者可能涉及多种类型的视网膜细胞病变，这给干细胞移植治疗带来了巨大的挑战，需要进一步的研究来解决这种方法在临床上面临的各种问题。通过对RP相关的病因及组织病理学改变的综合分析,这项研究基于严格的动物实验和临床试验证实了干细胞治疗的有效性和安全性，同时也强调了需要进一步调查的现有限制。
