Primary Open Angle Glaucoma

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Primary Open Angle Glaucoma (POAG)

Description:

Primary Open Angle Glaucoma (POAG) is a genetic mutation which causes pressure to build up in the eye, resulting in discomfort and vision loss. The genetic defect prevents the normal release of fluids in a dog's eyes. Interocular pressure increases, which then leads to retinal ganglia cell death. Retinal ganglions are nerve cells that receive visual information from the retina which is then transferred through the optic nerve to the brain. Once a retinal ganglion cell has died, it will not regenerate, and vision loss results.

 

Symptoms begin to show when a dog is between 8 months to a year and a half old.  An affected dog's eyes may appear red, enlarged and irritated, or a dog may show discomfort and try to rub its eyes. Treatment is sometimes possible, but if the condition is not quickly identified and addressed, vision loss and blindness can result. 

 

Because POAG is inherited as an autosomal recessive condition, a carrier dog does not show any symptoms of the condition. This makes DNA testing an important tool for breeders to ensure the health of the puppies.

Sample Type:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at test now.

Test Is Relevant To the Following Breeds:

Beagles

Additional Tests For Beagles:

Osteogenesis Imperfecta (OI) or Brittle Bones Disease

Factor VII Deficiency (FVII)

Imerslund-Grasbeck Syndrome (IGS) or Selective Cobalamin Malabsorption

Pyruvate Kinase Deficiency (PKD)

Musladin-Leuke Syndrome (MLS)

Neonatal Cerebellar Cortical Degeneration (NCCD)

Combination panel (OI) (POAG) (FVII) (IGS) (PKD) (MLS) (NCCD)

Results:

Animal Genetics offers DNA testing for Primary Open Angle Glaucoma (POAG). The genetic test verifies the presence of the recessive Gly661Arg variant in ADAMTS10 and presents results as one of the following:

POAG/POAG Affected The dog carries two copies of the mutation and is homozygous for POAG. The dog is affected and will always pass a copy of the mutated gene to its offspring.
POAG/n Carrier Both the normal and mutant variants in detected. Dog is a carrier for POAG and can pass on a copy of the defective gene to its offspring.
n/n Clear Dog tested negative for the POAG mutation and will not pass on the defective gene to its offspring.

References:

Kuchtey J, Kunkel J, Esson D, Sapienza JS, Ward DA, Plummer CE, Gelatt KN, Kuchtey RW. Screening ADAMTS10 in dog populations supports Gly661Arg as the glaucoma-causing variant in beagles. Invest Ophthalmol Vis Sci. 2013 Mar 13;54(3):1881-6. doi: 10.1167/iovs.12-10796.