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.
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.
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)
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.
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.
Publication demonstrates strong association between mutation and disease in Golden retrievers. No funtional evidence presented. Downs et al., (2014) A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genetics and Epidemiology, 1,
Australian Labradoodle, Goldendoodle
Breed-specific 2 Details
Unpublished. But given Goldendoodles and Labradoodles have Golden Retriever and/or Labrador Retriever ancestry it is not unreasonable to screen these cross-breeds for this mutation.
Breed-specific details 3
Anecdotal (unpublished research) evidence for a purebred Labrador Retriever with PRA being homozygous for this mutation.
Downs, L.M., Bell, J.S., Freeman, J., Hartley, C., Hayward, L.J., Mellersh, C.S. : Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutati
Application in the Breed
Carriers may be bred to normal animals (N/rcd1 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/rcd1 x N/rcd1) nor of affected animals (rcd1/rcd1). Retina degenerates ( 3 weeks of age), leading to blindness (early adulthood)
Downs LM, Wallin-H??kansson B, Boursnell M, , Bergstróm T, Mellersh CS. 2014. A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genetics and Epidemiology 1:4
Application in the Breed
bilateral degeneration of the retina resulting in progressive vision loss leading to total blindness
Choosing a Genetic Test Provider Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you.
The HGTD genetic counselling resources index link above and links below provide access to basic introductory articles on genetics, articles on application of genetics in breed health management and advanced work in technical genetics research. Breed-specific information is also available in DWN's Pedigreed Dogs Database.