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Stargardt Disease (Discovered in the Labrador Retriever)

Stargardt Disease (STGD) is a form of late onset retinal degeneration, resulting in loss of the light detecting cells at the back of the eye and progressive vision loss.

Found in

1 in 64 dogs

in our testing

Key Signs

Decreased vision, Blindness

Age of Onset

7 + yrs

Senior to geriatric 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 STGD

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 STGD

Clinical signs include variable reflectivity of the tapetum and attenuated blood vessels. Age of onset for this form of PRA is typically late, although onset age can vary significantly. The disorder is progressive, causing increasing levels of vision loss and may eventually lead to blindness.

Although this condition causes photoreceptor degeneration and loss of vision, 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.

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 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 STGD mutation can be safely bred with a clear dog with no copies of the STGD mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the STGD 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 STGD mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene ABCA4
Variant Insertion
Chromosome 6
Coordinate Start 55,146,549
Coordinate End 55,146,550

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Mäkeläinen, S., Gòdia, M., Hellsand, M., Viluma, A., Hahn, D., Makdoumi, K., … Bergström, T. F. (2019). An ABCA4 loss-of-function mutation causes a canine form of stargardt disease. PLoS Genetics, 15(3), 1–23. View the article