Zangerl, BarbaraAguirre, Gustavo DKuznetsova, Tatyana N2023-05-232023-05-232012-01-012015-04-15https://repository.upenn.edu/handle/20.500.14332/49006Cone–rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type 1 was described in dogs associated with an RPGRIP1 exon 2 mutation, but with lack of complete concordance between genotype and phenotype. This review highlights role of the RPGRIP1, a component of complex protein networks, and its function in the primary cilium, and discusses the potential mechanisms of genotype–phenotype discordance observed in dogs with the RPGRIP1 mutation.The final publication is available at www.springerlink.comRPGRIP1polymorphismcone-rod dystrophyprotein networkphotoreceptor ciliaEye DiseasesGeriatricsMedical BiotechnologyMedical GeneticsMedical ImmunologyOphthalmologyVeterinary MedicineArticle