Here, we characterize a Canadian family of U.K (paternal) and presumed European descent (maternal) with a history of MKS carrying compound heterozygous variants in RPGRIP1L. Identification and characterization of these variations allows for an increased understanding of the pathophysiological processes leading to ciliary dysfunction in MKS and retinal degeneration. Here, RPGRIP1L is linked to retinal degeneration.