In order to investigate whether the ability of AIPL1 to delay the NUB1-mediated degradation of FAT10-DHFR was relevant to LCA pathogenesis, the ability of the AIPL1 mutants A197P, C239R and G262S to hinder degradation of FAT10-DHFR was assessed. The gene discussed is DHFR; the disease is Leber congenital amaurosis.