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Primary Open Angle Glaucoma (Petit Basset Griffon Vendeen Type)

Affected Genes: ADAMTS17

Inheritance: Autosomal Recessive

Variant(canFam6):
chr3:40,812,274-45,768,123 4.955 MLN bp inversion

Breed: Petit Basset Griffon Vendeen

General Information: Primary Open Angle Glaucoma (Petit Basset Griffon Vendeen Type) is an inherited disorder in dogs characterized by an increase in intraocular pressure (IOP) due to poor drainage of the aqueous humor from the eye. This elevated IOP can cause damage to the optic nerve, leading to progressive vision loss and eventual blindness if left untreated. Dogs with two copies of the associated ADAMTS17 gene mutation are predisposed to this condition, which typically manifests in middle-aged to older dogs. Symptoms include redness in the eye, excessive tearing, sensitivity to light, squinting, cloudy cornea, and noticeable enlargement of the eye. The condition can be painful and often requires long-term management with medications or surgery to control the IOP and prevent further damage.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the ADAMTS17 gene can determine if a dog is a carrier of Primary Open Angle Glaucoma (Petit Basset Griffon Vendeen Type). This condition is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.


References:
Forman OP, Pettitt L, Komáromy AM, Bedford P, Mellersh C (2015) A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17. PLoS ONE 10(12): e0143546.