Present at birth
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.
Clinical signs include progressive retinal atrophy with a variable age of onset, upturned nose, dental defects and coat abnormalities (wave and texture). Preliminary evidence suggests that kidney disease may also be associated with this syndrome. Dogs may also show an increased propensity for food and, as a result, are more vulnerable to becoming obese.
Although this condition causes photoreceptor degeneration, progressing to complete loss of sight, many dogs adapt 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. To ensure dogs with the mutation remain a healthy weight, lifelong careful management of diet may be required. A balance of correct food intake and appropriate levels of exercise will be needed. Specialized satiety diets may help affected dogs to maintain a healthy weight.
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 occur. A carrier dog with one copy of the PRA mutation can be safely bred with a clear dog with no copies of the PRA mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the PRA 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 PRA mutation could develop due to a different genetic or clinical cause.