Medical Biotechnology Commons^™

Rpgrip1 And Cone-Rod Dystrophy In Dogs, Tatyana N. Kuznetsova, Barbara Zangerl, Gustavo D. Aguirre

Gustavo D. Aguirre, VMD, PhD

Cone–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.