The most common retinopathy (LCA) mutation in CEP290 gene is an A-to-G nucleotide change in intron 26 (c.2991 + 1655A >G; IVS26) that creates a novel splice donor site and results in a 128-bp cryptic exon with a premature stop codon [175,176]. The gene discussed is CEP290; the disease is Leber congenital amaurosis.