Patient 2, a 25-years-old woman, was referred for molecular diagnosis of non-syndromic RP and was found to have a heterozygous well established pathogenic variant, c.1169T>G (p.M390R), and a heterozygous nonsense variant, c.1645G>T(p.E549*), in the BBS1 gene. This evidence concerns the gene BBS1 and retinitis pigmentosa 1.