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Progressive Retinal Atrophy, GR PRA2

General

Disease Name
Progressive Retinal Atrophy, GR PRA2
Disease Name 2
GR PRA2
OMIA
1984
Gene Name
TTC8
Mutation
c.699delA
Disease Code
GR PRA2
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 5 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 2 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 5 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.
Patents/ Licences
Patent: Pending. License: OptiGen - N. and S. America for Golden Retrievers. Test Discovery: Animal Health Trust. (please note that patent and licensing laws and coverage vary by country)
Published
Downs, L.M., Wallin-Håkansson, B., Bergström, T., Mellersh, C.S. : A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genet Epidemiol 1:4, 2014. Pubmed reference: 26401321. DOI: 10.1186/2052-6687-1-4.
Published 2
Downs, L.M., Aguirre, G.D. : FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. Adv Exp Med Biol 854:201-7, 2016. Pubmed reference: 26427412. DOI: 10.1007/978-3-319-17121-0_27.
Body/System/Process
Eye
Inheritance
AR
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