Moreover, the phenotype suggests pathogenicity (supporting argument 4) of the mutation, as retinal dystrophy has also been reported in another patient with arRP and biallelic mutations in CEP83 (p.Arg209*/p.Arg511Pro) [58] located in the same coiled-coil domain as the p.Lys238Glu mutation harbored by GP057. This evidence concerns the gene CEP83 and Retinal dystrophy.