CEP290 and Leber congenital amaurosis: CEP290 encodes a 290 KDa centrosomal protein, which has an essential role in the development and maintenance of primary and motile cilia.5,6,7CEP290 mutations cause both nonsyndromic LCA and syndromic forms with renal, kidney, neural tube, central nervous systems, and/or bone involvement.8 Over 100 unique CEP290 mutations are reported which include a recurrent deep intronic mutation underlying 10–15% of nonsyndromic LCA cases (c.2991+1655A>G).8,9,10,11 This mutation is located in intron 26 where it activates a cryptic splice donor site downstream of a strong acceptor splice site.