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Primary Open Angle Glaucoma      POAG-PBGV Test          Code 317

For breeds: Petit Basset Griffon Vendeen

Clinical Signs/Disease description:
Primary Open Angle Glaucoma (POAG) in Petit Basset Griffon Vendeen (PBGV) dogs is an inherited disease that is characterized by increased intraocular pressure (IOP), lens subluxation, and globe enlargement. These initial clinical signs of POAG are commonly observed in young or middle-aged dogs (from 3 years of age and onwards). As disease progresses, retinal degeneration and a cupping deformation of the optic papilla may occur leading to a substantial decline in vision. Disease prevalence has been estimated on a large number of PBGVs from the UK population, with 10.4% of the examined dogs showing clinical signs of POAG (1, 2).

POAG-PBGV mutation test:
A large inversion
disrupting the ADAMTS17 gene has been found to be associated with Primary Open Angle Glaucoma in Petit Basset Griffon Vendeen dogs (1). Currently, this mutation has been detected in this breed only. A DNA test is now available and may be used by breeders to decrease frequency of the mutation in the breeding stock and to avoid producing affected progeny.

Testing/Breeding Recommendations:
Primary Open Angle Glaucoma in Petit Basset Griffon Vendeen is an autosomal recessive condition, therefore only Homozygous Affected individuals that have two copies of the ADAMTS17 mutation, inherited from both parents, have a higher risk of developing this form of POAG. Carriers of only one copy of the mutation will not develop the disease.

For detailed recommendations on breeding strategies using results of OptiGen testing, please refer to the chart below.

 

Expected results for breeding strategies using the
POAG-PBGV test

Parent 1
Genotype
Parent 2 Genotype
Normal/ClearCarrierAffected
Normal/ClearAll = Normal/Clear1/2 = Normal/Clear
1/2 = Carrier
All = Carrier
Carrier1/2 = Normal
1/2 = Carrier
1/4 = Normal/Clear
1/2 = Carrier
1/4 = Affected
1/2 = Carrier
1/2 = Affected
Affected All = Carrier
1/2 = Carrier
1/2 = Affected
All = Affected

 

References:

1. Forman OP, Pettitt L, Komaromy AM, Bedford P, and Mellersh C. 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. 2015. PLoS ONE 10 (12) e0143546.

2. Bedford P. Open-angle glaucoma in the Petit Basset Griffon Vendeen. Vet Ophthalmol. 2016 Mar 4 doi: 10.1111/vop.12369.


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