One of the most intriguing ciliopathy-associated disease genes is the gene for Centrosomal Protein 290 (CEP290), in which mutations cause various distinct retinal phenotypes, ranging from non-syndromic Leber congenital amaurosis, early onset IRD or retinitis pigmentosa over Senior-Loken, Joubert, and Bardet-Biedl, to lethal Meckel-Grüber syndrome [1, 2]. The gene discussed is CEP290; the disease is ciliopathy.