Transcriptomic analysis of the ocular posterior segment completes a cell atlas of the human eye

• DOI: 10.1073/pnas.2306153120
• Publication Date: 2023-08-11T17:40:48Z
• Authors: Aboozar Monavarfe...; Wenjun Yan; Christian Pappas; Kenechukwu A. Ode...; Zhigang He; Ayellet V. Segrè; Tavé van Zyl; Gregory S. Hageman; Joshua R. Sanes
• Keywords: Optic Disk; Humans; Endothelial Cells; Glaucoma; Optic Nerve; Biological Sciences; Transcriptome; Article; Sclera

Although the visual system extends through brain, most vision loss originates from defects in eye. Its central element is neural retina, which senses light, processes signals, and transmits them to rest of brain optic nerve (ON). Surrounding retina are numerous other structures, conventionally divided into anterior posterior segments. Here, we used high-throughput single-nucleus RNA sequencing (snRNA-seq) classify characterize cells six extraretinal components segment: ON, head (ONH), peripheral sclera, peripapillary sclera (PPS), choroid, retinal pigment epithelium (RPE). Defects each these tissues associated with blinding diseases-for example, glaucoma (ONH PPS), neuritis (ON), retinitis pigmentosa (RPE), age-related macular degeneration (RPE choroid). From ~151,000 single nuclei, identified 37 transcriptomically distinct cell types, including multiple types astrocytes, oligodendrocytes, fibroblasts, vascular endothelial cells. Our analyses revealed a differential distribution many among structures. Together our previous segment data presented here complete "Version 1" atlas human We this map expression >180 genes risk developing glaucoma, known involve ocular both segments as well retina. Similar methods can be investigate additional diseases, currently untreatable.