Document Type
Journal Article
Date of this Version
2012
Publication Source
Retinal Degenerative Diseases: Advances in Experimental Medicine and Biology
Volume
723
Start Page
321
Last Page
328
DOI
10.1007/978-1-4614-0631-0_42
Abstract
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.
Copyright/Permission Statement
The final publication is available at www.springerlink.com
Keywords
RPGRIP1, polymorphism, cone-rod dystrophy, protein network, photoreceptor cilia
Recommended Citation
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
Included in
Eye Diseases Commons, Geriatrics Commons, Medical Biotechnology Commons, Medical Genetics Commons, Medical Immunology Commons, Ophthalmology Commons, Veterinary Medicine Commons
Date Posted: 06 May 2015
This document has been peer reviewed.