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]. Here, IMPDH1 is linked to Leber congenital amaurosis.