One of the more recently identified disease genes that contribute to the genetic heterogeneity of IRD is the centrosomal gene CEP78 (MIM# 617110), in which several types of variants, inactivating sequence variants as well as a unique missense variant have been found in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL; MIM# 617236), a recognizable phenotype distinct from Usher syndrome (Fu et al., 2016; Namburi et al., 2016; Nikopoulos et al., 2016; Ascari et al., 2020). Here, CEP78 is linked to Usher syndrome.