CEP290 is termed “a gene with many faces” for its broad phenotypic spectrum, which involves retinal dystrophy, renal disease, hepatic disease, cardiac disease, encephalocele, and situs inversus (Adam et al., 1993; Valente et al., 2008; Coppieters et al., 2010). The gene discussed is CEP290; the disease is Retinal dystrophy.