Senior to geriatric onset
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.
At risk dogs are highly likely to show signs of this disease in their lifetime.
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.
Progressive Retinal Atrophy is one type of genetically inherited retinal dystrophy in the Lapponian Herder. This variant is associated with a late-onset and slowly progressing form of PRA. Initial clinical signs usually correspond with the loss of vision in dim light (night blindness) caused by degeneration of rod photoreceptor cells in both eyes. Over time, there is a slow, gradual progression to total blindness as the cone photoreceptor cells of the retina also degenerate. The age of onset varies considerably among affected dogs, with the average age being 9 years old. Please note, affected dogs may develop the first signs of vision loss several years earlier or several years later than this average. In contrast to other species with this genetic variant, the associated disorder in the dog appears to be limited to vision loss.
Although this form of PRA results in gradual vision loss, and eventual blindness, the progression is slow with some dogs maintaining limited vision at 13 years of age. While many dogs adapt remarkably well to vision loss, owners should be advised 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 their vision declines. Precautions to protect the dog from threats they cannot visually detect (such as stairs, pools, etc.) should also be taken.
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 disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. A carrier dog with one copy of the Progressive Retinal Atrophy (Discovered in the Lapponian Herder) variant can be safely bred with a clear dog with no copies of the Progressive Retinal Atrophy (Discovered in the Lapponian Herder) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. Furthermore, a dog with two copies of the Progressive Retinal Atrophy (Discovered in the Lapponian Herder) variant can be safely bred with a clear dog. The resulting puppies will all be carriers. 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 disorder signs similar to the ones associated with this Progressive Retinal Atrophy variant could develop due to a different genetic or clinical cause.
All coordinates reference CanFam3.1
Kaukonen, M., Pettinen, I.T., Wickström, K., Arumilli, M., Donner, J., Juhola, I.J., … Lohi, H. (2021). A missense variant in IFT122 associated with a canine model of retinitis pigmentosa. Hum Genet, 140(11), 1569-1579. View the article