Gene expression provides valuable insight into cell function. As such, vision researchers have frequently employed gene expression studies to better understand retinal physiology and disease. With the advent of single-cell RNA sequencing, expression experiments provide an unparalleled resolution of information. Instead of studying aggregated gene expression across all cells in a heterogenous tissue, single-cell technology maps RNA to an individual cell, which facilitates grouping of retinal and choroidal cell types for further study. Single-cell RNA sequencing has been quickly adopted by both basic and translational vision researchers, and single-cell level gene expression has been studied in the visual systems of animal models, retinal organoids, and primary human retina, RPE, and choroid. These experiments have generated detailed atlases of gene expression and identified new retinal cell types. Likewise, single-cell RNA sequencing investigations have characterized how gene expression changes in the setting of many retinal diseases, including how choroidal endothelial cells are altered in age-related macular degeneration. In addition, this technology has allowed vision researchers to discover drivers of retinal development and model rare retinal diseases with induced pluripotent stem cells. In this review, we will overview the growing number of single-cell RNA sequencing studies in the field of vision research. We will summarize experimental considerations for designing single-cell RNA sequencing experiments and highlight important advancements in retinal, RPE, choroidal, and retinal organoid biology driven by this technology. Finally, we generalize these findings to genes involved in retinal degeneration and outline the future of single-cell expression experiments in studying retinal disease.

基因表达提供了对细胞功能的宝贵见解。因此，视觉研究人员经常使用基因表达研究来更好地了解视网膜生理和疾病。随着单细胞 RNA 测序的出现，表达实验提供了无与伦比的信息分辨率。单细胞技术不是研究异质组织中所有细胞的聚合基因表达，而是将 RNA 映射到单个细胞，这有助于对视网膜和脉络膜细胞类型进行分组以供进一步研究。单细胞 RNA 测序已被基础和转化视觉研究人员迅速采用，单细胞水平的基因表达已在动物模型、视网膜类器官和原代人类视网膜、RPE 和脉络膜的视觉系统中进行了研究。这些实验生成了详细的基因表达图谱并确定了新的视网膜细胞类型。同样，单细胞 RNA 测序研究已经描述了基因表达在许多视网膜疾病的情况下如何变化，包括脉络膜内皮细胞如何在与年龄相关的黄斑变性中发生变化。此外，这项技术使视觉研究人员能够发现视网膜发育的驱动因素，并用诱导多能干细胞模拟罕见的视网膜疾病。在这篇综述中，我们将概述视觉研究领域中越来越多的单细胞 RNA 测序研究。我们将总结设计单细胞 RNA 测序实验的实验注意事项，并强调由该技术驱动的视网膜、RPE、脉络膜和视网膜类器官生物学的重要进展。