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Goniodysgenesis and Glaucoma (Discovered in the Border Collie)

Goniodysgenesis and glaucoma is an eye disorder where the pressure inside the eye increases to higher than normal levels, and can lead to eye damage and blindness.

Found in

1 in 5,000 dogs

in our testing

Key Signs

Goniodysgenesis, Glaucoma, Vision Loss

Age of Onset

1 to 4 yrs

Junior to adult 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

Moderate likelihood

At risk dogs may show signs of this disease in their lifetime, although some will not develop the condition due to absence of additional risk factors.

What to Do

Here’s how to care for a dog with Goniodysgenesis and glaucoma

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 Goniodysgenesis and glaucoma

Glaucoma is characterized by reduced outflow of intraocular fluid and elevated intraocular pressure. The first clinical signs are usually early onset for this condition. Goniodysgenesis, narrowing or closure of the iridocorneal angle through which the aqueous humor drains, may be detectable through gonioscopy. Goniodysgenesis may lead to glaucoma, however some dogs will go through their lives without any increase in eye pressure despite severe goniodysgenesis. Untreated glaucoma may lead to damage to the retina, resulting in vision loss and blindness.

Routine monitoring of eye pressures is recommended. Medical management may be an option for glaucoma. Advanced cases which do not respond well to medical therapy may benefit from enucleation.

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

Technical Details

Gene OLFML3
Variant G>A
Chromosome 17
Coordinate 51,786,924

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Pugh, C. A., Farrell, L. L., Carlisle, A. J., Bush, S. J., Ewing, A., Trejo-Reveles, V., … Summers, K. M. (2019). Arginine to glutamine variant in olfactomedin like 3 (OLFML3) is a candidate for severe goniodysgenesis and glaucoma in the border collie dog breed. G3: Genes, Genomes, Genetics, 9(3), 943–954. View the article