Mutations in these ciliary genes are implicated in photoreceptor degeneration related ciliopathies [16, 54], such as RPGRIP1 in cone dystrophy (CD)/cone-rod dystrophy (CRD), LCA5 and CEP290 in Leber congenital amaurosis (LCA), Fam161A and OFD1 in RP. Here, RPGRIP1 is linked to Cowden disease.