Common variants are associated with elevated creatine in association studies [32];In patients with syndromic nephronophthisis caused by several genes (including NPHP3, IQCB1, CEP290, and MKS1), an additional heterozygous variant in RPGRIP1L is associated with retinitis pigmentosa [44]. The gene discussed is MKS1; the disease is retinitis pigmentosa.