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 language | English |
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Article number | 5 |
Pages (from-to) | 321-328 |
Number of pages | 8 |
Journal | Advances in Experimental Medicine and Biology |
Volume | 723 |
DOIs | |
Publication status | Published - 2012 |
Externally published | Yes |
Keywords
- Cone-Rod Dystrophy
- Photoreceptor Cilia
- Polymorphism
- Protein Network
- RPGRIP1