The prevalence of IRD and most importantly the frequency of gene mutations causing those diseases are not well characterized in Italy and only few data have been reported [22–24]. RPE65, CRB1, and GUCY2D were identified as the most prevalent mutated genes in Italian LCA patients [22] and RHO was reported to be the gene most commonly responsible for ADRP [23] and EYS the most recurrent for nonsyndromic ARRP and sporadic cases [24]. The gene discussed is CRB1; the disease is Leber congenital amaurosis.