Single-Cell transcriptomic profiling of mouse retinal vascular cells reveals mechanisms of familial exudative vitreoretinopathy.

Familial Exudative Vitreoretinopathy (FEVR) is a rare, inherited disorder characterized by a failure of peripheral retinal blood vessels to develop fully.To investigate the pathogenic mechanisms of FEVR, we conducted single-cell RNA-sequencing of retinal vascular cells from two distinct mouse models: Tspan12 knockout mice and mice with an endothelial-specific conditional knockout of Ctnnb1, which encodes ß-catenin. Our analysis of the cellular and molecular profiles of these cells provides unprecedented insight into how disruption of key components of the Norrin/ß-catenin pathway contributes to the pathology of FEVR. Overall design: Three samples from wild-type (WT) mice, Tspan12 knockout (KO) mice, and Ctnnb1 conditional knockout (cKO) mice.