Mutations in the gene encoding IQ calmodulin-binding motif containing B1 (IQCB1/NPHP5) are the most common cause of renal-retinal Senior-Løken syndrome (SLSN) (Otto et al., 2005) and are also detected in patients with non-syndromic Leber congenital amaurosis (LCA) (Estrada-Cuzcano et al., 2011; Stone et al., 2011). This evidence concerns the gene IQCB1 and Senior-Loken syndrome.