CEP290 and Kallmann syndrome: In patients with CEP290-LCA, the presence of residual CEP290 protein is proposed to be associated with a relatively milder phenotype, limited to vision loss and anosmia, in contrast to more severe pleiotropic phenotypes observed with other CEP290 mutations (den Hollander et al., 2006; Drivas et al., 2015; McEwen et al., 2007; Sayer et al., 2006).