TRPV4 mutations underpin sensorimotor neuropathies, skeletal dysplasias, retinal degeneration, and ocular dysfunction (Nilius and Voets, 2013; Thibodeau et al., 2017; Klein et al., 2011), while the role of TRPV4 signaling in OHT remains contentious, with evidence suggesting both IOP-lowering and IOP-elevating effects. This evidence concerns the gene TRPV4 and skeletal dysplasia.