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.
Typically, the first ocular fundus changes in CMR3 can be diagnosed by the age of four months. In many cases, the lesions may appear to heal or even go away, sometimes leaving no evidence or only a wrinkle at the site of the healed lesion. In almost all cases, lesions from CMR3 do not progress significantly over time, so there is generally no reduction in eyesight though more serious cases could exhibit vision impairment. Very seldom is the patient completely blinded.
Monitor fundus changes for evidence of healing and monitor patient for any signs of visual impairment.
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 CMR3 mutation can be safely bred with a clear dog with no copies of the CMR3 mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the CMR3 mutation. A dog with two copies of the CMR3 mutation can be safely bred with a clear dog. The resulting puppies will be all carriers with one copy of the CMR3 mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Please note: It is possible that disease signs similar to the ones caused by the CMR3 mutation could develop due to a different genetic or clinical cause.
All coordinates reference CanFam3.1
Guziewicz, K. E., Slavik, J., Lindauer, S. J. P., Aguirre, G. D., & Zangerl, B. (2011). Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies. Investigative Ophthalmology and Visual Science, 52(7), 4497–4505. View the article
Guziewicz, K. E., Zangerl, B., Lindauer, S. J., Mullins, R. F., Sandmeyer, L. S., Grahn, B. H., Stone, E. M., Acland, G. M., & Aguirre, G. D. (2007). Bestrophin gene mutations cause canine multifocal retinopathy: A novel animal model for best disease. Investigative Ophthalmology and Visual Science. View the article
Zangerl B, Wickström K, Slavik J, Lindauer SJ, Ahonen S, Schelling C, Lohi H, Cuziewicz KE, Aguirre GD. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis 16:2791-2804, 2010. View the article