Date of this Version
Retinal Degenerative Diseases: Advances in Experimental Medicine and Biology
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.
The final publication is available at www.springerlink.com
RPGRIP1, polymorphism, cone-rod dystrophy, protein network, photoreceptor cilia
Kuznetsova, T. N., Zangerl, B., & Aguirre, G. D. (2012). RPGRIP1 and Cone-Rod Dystrophy in Dogs. Retinal Degenerative Diseases: Advances in Experimental Medicine and Biology, 723 321-328. http://dx.doi.org/10.1007/978-1-4614-0631-0_42
Date Posted: 06 May 2015
This document has been peer reviewed.