Mutations in CEP290 gene have been associated with a wide range of ciliopathies, ranging from lethal syndromes (Meckel-Grüber syndrome MIM#611134) to non-syndromic retinal degeneration (Leber congenital amaurosis MIM#611755) [4,5,6,7]. Here, CEP290 is linked to Leber congenital amaurosis.