Progressive retinal Atrophy, golden retriever 1 (GR-PRA1) is a late-onset inherited eye disease affecting golden retrievers. Affected dogs begin showing clinical symptoms related to retinal degeneration between 6 to 7 years of age on average, though age of onset can vary. Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the Retina called the Tapetum that can be observed on a veterinary eye exam. Progression of the disease leads to thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Affected dogs initially have vision loss in dim light (night blindness) and loss of peripheral vision, eventually progressing to complete blindness in most affected dogs.
Breed-Specific Information for the Golden Retriever
The Mutation of the SLC4A3 gene associated with progressive retinal Atrophy, golden retriever 1 has been identified in golden retrievers. Though the frequency in the overall golden retriever population is unknown, in one study of 369 golden retrievers clinically free of disease tested from the UK, US, Sweden, and France, 10.5% were carriers of the mutation.
Genetic testing of the SLC4A3 gene in golden retrievers will reliably determine whether a dog is a genetic Carrier of GR-PRA1. GR-PRA1 is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SLC4A3 gene mutation. Reliable genetic testing is important for determining breeding practices. Because symptoms do not appear until adulthood, genetic testing should be performed before breeding. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Golden retrievers that are not found to have this specific mutation have no increased risk of having affected pups for progressive retinal Atrophy, golden retriever 1. However, because there are multiple types of progressive retinal atrophy caused by mutations in other genes, a normal result in SLC4A3 does not exclude progressive retinal atrophy in a pedigree.
There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.
Downs LM, Wallin-Hakansson B, Boursnell M, Marklund S, Hedhammar A, Truve K, Hubinette L, Lindblad-Toh K, Bergstrom T, Mellersh CS. A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One. 2011;6(6):e21452.