CEP290 and Leber congenital amaurosis: A recent meta-analysis of 138 CEP290 mutations in 250 individuals demonstrated that LCA is the most common associated phenotype (57%) and that 86% of the CEP290 LCA patients had at least one copy of the most common CEP290 mutation, a deep intronic c.2991+1665A>G change (Drivas et al., 2015).