Reminder: Login to access new features and members-only content!

Register to be a member of our community. Its easy!

Register a new account

Already a member?

Log In here!

Donate

Did you find our content interesting or helpful? Help support the IPFD enhance health, well-being and welfare for dogs everywhere.

Jump to content
  •   Language
  • Sign Up

International Partnership for Dogs - Enhancing Dog Health, Well-Being, and Welfare - Join Us.

Progressive Retinal Atrophy, PRA1

Breed: Cockapoo

Breeds

Relevance Rating: Some evidence for test being meaningful in this breed

Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds

General

Disease Name
Progressive Retinal Atrophy, PRA1
Mutation
c.2685delA2687_2688insTAGCTA
Mutation 2
2601_2602insC
Test Type
Genetic Disease/Disorder
Details
This form of PRA for the Golden Retriever is one of several that can be tested for. The signs of GR PRA1 are typical of the late-onset forms of the disease. Age of diagnosis is most often around 6 years, but there is variation across the breed. Dogs typically experience night blindness leading to reduced sight even in bright conditions. There are known to be more than one gene mutations that cause PRA(prcd) in the Golden Retriever. Any test for GR PRA 1 can only confirm for the mutation, or not, in this specific form.
Details 2
Most PRA cases in the Golden Retriever (GR) are clinically indistinguishable from other forms of PRA. The mode of inheritance appears from pedigree information to be autosomal recessive. While the age of diagnosis is most commonly at a relatively late age of approximately 6 years there is a great deal of variation within the breed. There are known to be more than one gene mutations that cause PRA(prcd) in the Golden Retriever.
Published
Downs, L.M., Wallin-Håkansson, B., Boursnell, M., Marklund, S., Hedhammar, Å., Truvé, K., Hübinette, L., Lindblad-Toh, K., Bergström, T., Mellersh, C.S. : A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One 6:e21452, 2011. Pubmed reference: 21738669. DOI: 10.1371/journal.pone.0021452.

Breed Specific Info

Breed-specific 1
Golden Retrievers
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.