Mutations in RPGRIP1 cause Leber congenital amaurosis (LCA6 [MIM 605446]) and cone-rod dystrophy (CORD13 [MIM 608194]) [22], [25], and mutations in RPGRIP1L cause Joubert syndrome (JBTS7 [MIM 611560]) and Meckel syndrome (MKS5 [MIM 611561]) [27], [28], two syndromic ciliopathies with associated retinal dystrophy. Here, RPGRIP1L is linked to Leber congenital amaurosis.