Pathogenic variants in CEP290 are associated with a wide spectrum of ciliopathies, including syndromic conditions, such as Joubert syndrome (JBTS, MIM#610188), Senior–Loken syndrome (SLSN, MIM#610189), and Meckel syndrome (MKS, MIM#611134), as well as non-syndromic inherited retinal dystrophies (IRDs), like Leber congenital amaurosis (LCA, MIM#611755), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP) [5,6,7,8,9,10]. This evidence concerns the gene CEP290 and Joubert syndrome.