Plössl Karolina, Milenkovic Andrea, Weber Bernhard H F
Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.
Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany.
Med Genet. 2021 Dec 3;33(3):221-227. doi: 10.1515/medgen-2021-2092. eCollection 2021 Sep.
The human retina is a highly structured and complex neurosensory tissue central to perceiving and processing visual signals. In a healthy individual, the close interplay between the neuronal retina, the adjacent retinal pigment epithelium and the underlying blood supply, the choriocapillaris, is critical for maintaining eyesight over a lifetime. An impairment of this delicate and metabolically highly active system, caused by genetic alteration, environmental impact or both, results in a multitude of pathological phenotypes of the retina. Understanding and treating these disease processes are motivated by a marked medical need in young as well as in older patients. While naturally occurring or gene-manipulated animal models have been used successfully in ophthalmological research for many years, recent advances in induced pluripotent stem cell technology have opened up new avenues to generate patient-derived retinal model systems. Here, we explore to what extent these cellular models can be useful to mirror human pathologies ultimately allowing to analyze disease mechanisms and testing treatment options in the cell type of interest on an individual patient-specific genetic background.
人类视网膜是一种高度结构化且复杂的神经感觉组织，对于视觉信号的感知和处理至关重要。在健康个体中，神经元视网膜、相邻的视网膜色素上皮以及下方的血液供应脉络膜毛细血管之间的紧密相互作用，对于维持一生的视力至关重要。由基因改变、环境影响或两者共同导致的这个精细且代谢高度活跃的系统的损伤，会引发视网膜的多种病理表型。由于年轻和老年患者都有明显的医疗需求，因此对这些疾病过程的理解和治疗受到了推动。虽然天然存在的或基因操作的动物模型多年来已成功用于眼科研究，但诱导多能干细胞技术的最新进展开辟了新途径，可生成患者来源的视网膜模型系统。在这里，我们探讨这些细胞模型在多大程度上可用于反映人类病理学，最终能够在个体患者特异性遗传背景下，在感兴趣的细胞类型中分析疾病机制并测试治疗方案。
