RPGRIP1 and cone-rod dystrophy in dogs

Tatyana Kuznetsova, Barbara Zangerl, Gustavo D. Aguirre

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.
Original languageEnglish
Article number5
Pages (from-to)321-328
Number of pages8
JournalAdvances in Experimental Medicine and Biology
Volume723
DOIs
Publication statusPublished - 2012
Externally publishedYes

Keywords

  • Cone-Rod Dystrophy
  • Photoreceptor Cilia
  • Polymorphism
  • Protein Network
  • RPGRIP1

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