Defects in several of these ciliary DEGs have been associated with USH (Cep250 (atypical USH) (Khateb et al., 2014), Pcdh15 (USH1F) (Ahmed et al., 2001) or other retinal ciliopathies Fam164a (RP28) (Bandah-Rozenfeld et al., 2010; Langmann et al., 2010; Karlstetter et al., 2014) leading to retinal degenerations as seen in USH2C patients with pathogenic variants in the ADGRV1 gene. This evidence concerns the gene CEP250 and retinal ciliopathy.