Missense p.Arg302Leu substitution initially was described as a mutation that occurs in LCA patients [28], but its pathogenic role was disproved by finding biallelic disease-causing mutations in other genes in patients [88,89] and homozygous p.Arg302Leu variants in an unaffected person [88]; however, recent multilateral computational analysis revealed a possible digenic mechanism of mutations in AIPL1 and BBS2 to contribute to the retinal dystrophy development [118], but no experimental validation was obtained. Here, AIPL1 is linked to Retinal dystrophy.