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Dental-Skeletal-Retinal Anomaly (Discovered in the Cane Corso)

Dental-Skeletal-Retinal Anomaly (DSRA) is a disorder associated with dental irregularities, skeletal abnormalities, and progressive vision loss. The associated genetic variant has been identified in the Cane Corso.

Found in

1 in 6,800 dogs

in our testing

Key Signs

Brittle and discolored teeth, Tooth enamel defects, Disproportionate skeletal growth, Retinal degeneration, Vision loss

Age of Onset

0 to 2 yrs

Juvenile 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 DSRA

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 DSRA

Dental-Skeletal-Retinal Anomaly is a disorder associated with a combination of clinical signs which can first present during puppyhood. Affected dogs can have abnormalities of both their deciduous and permanent teeth that may include brittleness, translucent and brown discoloration, and multifocal enamel defects. These individuals can also show disproportionate growth, such as short and bent legs, and may be smaller in size than their littermates. An ophthalmic exam may reveal retinal changes consistent with progressive retinal atrophy (PRA), which results in vision loss.

There is no curative treatment for this disorder. Although progressive vision loss may occur, many dogs adapt well as long as they receive assistance in unfamiliar surroundings. 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. However, due to the combined clinical signs associated with this disorder, long-term prognosis may be poor for some affected dogs and humane euthanasia may be elected depending on quality of life.

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 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 Dental-Skeletal-Retinal Anomaly (Discovered in the Cane Corso) variant can be safely bred with a clear dog with no copies of the Dental-Skeletal-Retinal Anomaly (Discovered in the Cane Corso) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. 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. However, in order to reduce the prevalence of this variant in the breed population, use of dogs with one or two copies of the variant should be critically considered prior to matings. Please note: It is possible that disorder signs similar to the ones associated with this DSRA variant could develop due to a different genetic or clinical cause.

Technical Details

Gene MIA3
Variant I>S
Chromosome 38
Coordinate Start 16,920,529
Coordinate End 16,920,530

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Christen, M., Booij-Vrieling, H., Oksa-Minalto, J., de Vries, C., Kehl, A., Jagannathan, V., Leeb, T. (2021). MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA). Genes (Basel), 12 (10), 1497. View the article