The majority of causative mutations in LCA have an autosomal recessive pattern of inheritance (except for CRX, IMPDH1, and OTX2) and can affect all of the molecular mechanisms involved in vision: phototransduction (GUCY2D, AIPL1, RD3, KCNJ13), retinoid cycle (RPE65, LRAT, RDH12), ciliary transportation (LCA5, CEP290, RPGRIP1, SPATA7, TULP1, IQCB1), photoreceptor morphogenesis (CRX, CRB1, GDF6, PRPH2), guanine synthesis (IMPDH1), and photoreceptor differentiation (OTX2) [37]. The gene discussed is CEP290; the disease is Leber congenital amaurosis.