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Progressive Retinal Atrophy (Discovered in the Golden Retriever - GR-PRA1 variant)

Golden Retriever progressive retinal atrophy 1 (GR-PRA1) is an inherited eye disorder which causes degeneration of the light sensing retina at the back of the eye, resulting in progressive loss of vision.

Key Signs

Progressive vision loss, Blindness

Age of Onset

3 to 7 yrs

Adult to mature onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with GR-PRA1

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about GR-PRA1

In typical PRA, loss of function of rod photoreceptors occurs first, followed by loss of function of cone photoreceptors. Signs of disease include hyper-reflective tapetum and attenuated blood vessels. Age of onset for this form of PRA is typically late with the average age at diagnosis being 6 years of age, although onset age can vary significantly. The disorder is progressive, causing increasing levels of vision loss and eventual blindness.

Although this condition results in gradual vision loss, and eventual blindness, many dogs adapt remarkably well to vision loss. Although there is no treatment, owners should be advised that the disease development is gradual and their dog may need assistance in unfamiliar surroundings as clinical signs progress. Owners may find that it is helpful to keep the dog's main environment as stable as possible (avoid moving furniture, etc.) to help them navigate as vision worsens.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to develop. A carrier dog with one copy of the GR-PRA1 mutation can be safely bred with a clear dog with no copies of the GR-PRA1 mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the GR-PRA1 mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the GR-PRA1 mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene SLC4A3
Variant Insertion
Chromosome 37
Coordinate Start 26,145,746
Coordinate End 26,145,747

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Downs, L. M., Wallin-Håkansson, B., Boursnell, M., Marklund, S., Hedhammar, Å., Truvé, K., … Mellersh, C. S. (2011). A frameshift mutation in Golden Retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS ONE, 6(6). View the article