Juvenile onset
For autosomal dominant disorders, dogs with one or two copies of the disease variant are at risk of developing the condition. Inheriting two copies of the risk variant may make the risk higher or the condition more severe. They may produce puppies affected with the disorder 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.
The first clinical sign of the disease is reduced vision in the dark but eventually DPRA will result in blindness. Typically, signs of the disease occur at 6 to 18 months. The rate at which the disease progresses can vary but most affected dogs are blind by the age of 4 years.
Although there is no treatment or cure for this condition, affected dogs often adjust well to vision loss. Owners of affected dogs should be advised that their dog may need extra guidance at times, particularly when in unfamiliar surroundings.
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 dominant meaning that one copy of the mutation is needed for disease signs to occur. Use of dogs with one or two copies of the disease mutation is not recommended, as there is a risk that the resulting litter will contain affected puppies. For example if a dog with one copy of the DPRA mutation is bred with a clear dog with no copies of the DPRA mutation, about half of the puppies will have one copy and half will have no copies of the DPRA mutation. Please note: It is possible that disease signs similar to the ones caused by the DPRA mutation could develop due to a different genetic or clinical cause.
Gene | RHO |
---|---|
Variant | C>G |
Chromosome | 20 |
Coordinate | 5,637,394 |
All coordinates reference CanFam3.1
Kijas, J. W., Cideciyan, A. V., Aleman, T. S., Pianta, M. J., Pearce-Kelling, S. E., Miller, B. J., … Acland, G. M. (2002). Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences of the United States of America, 99(9), 6328–6333. View the article