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Progressive Retinal Atrophy, PRA1

Breed: Toy Fox Terrier

Generic Phene Data

General

Disease Name
Progressive Retinal Atrophy, PRA1
Disease Name 2
GR PRA 1
OMIA
1572
Gene Name
SLC4A3
Mutation
c.2685delA2687_2688insTAGCTA
Mutation 2
2601_2602insC
Disease Code
SLC4A3
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Golden Retriever PRA 1
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.
Published 2
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
Body/System/Process
Eye
Inheritance
AR

Breed Specific Data

Anicom

Link to GTP
GTP
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC

DNA My Dog

Link to GTP
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed
Inheritance
AR

Orivet Genetic Pet Care

Link to GTP
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed
Inheritance
AR
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