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

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Date Posted: 06 May 2015

This document has been peer reviewed.