This inherited primary open angle glaucoma in Beagles results from a mutation in the gene ADAMTS10. The condition is characterized by increased pressure in the eye; nerve damage, vision loss, lens subluxation, and blindness may result.
Phenotype: Elevated intraocular pressure (pressure in the eye) may be observed upon ophthalmic examination. The condition might not be noticed by owners until dog begins to show signs of vision loss. If untreated, nerve damage, vision loss, lens subluxation, and blindness may result.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, PO = Primary open angle glaucoma
Breeds appropriate for testing: Beagle
Explanation of Results:
Dogs with N/N genotype will not have this inherited primary open angle glaucoma and cannot transmit this variant to their offspring.
Dogs with N/PO genotype will not be affected by this inherited primary open angle glaucoma, but are carriers. They may transmit this variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% primary open angle glaucoma-affected puppies.
Dogs with PO/PO genotype will have this inherited primary open angle glaucoma, a condition potentially leading to blindness, and will transmit this variant to all of their offspring.
Primary open angle glaucoma (POAG) in the Beagle breed is an autosomal recessive disorder resulting from a mutation in the gene ADAMTS10. The mutation causes pressure in the eye to increase and, if untreated, nerve damage, vision loss, lens subluxation, and blindness may result. Both sexes are equally affected and carriers for the mutation do not exhibit any effects. The mutation has an estimated frequency of 1% in the Beagle population.
This DNA test detects the ADAMTS10 mutation that causes POAG in Beagles.
Note: This test does not detect other forms of POAG that occur in other breeds.
Carrier. 1 copy of the POAG mutation. Dog is normal.
Affected. 2 copies of the POAG mutation. Dog may go blind.
Kuchtey, J., Olson, L.M., Rinkoski, T., Mackay, E.O., Iverson, T.M., Gelatt, K.N., Haines, J.L., & Kuchtey, R.W. (2011). Mapping of the Disease Locus and Identification of ADAMTS10 as a Candidate Gene in a Canine Model of Primary Open Angle Glaucoma. PLoS Genetics7(2):e1001306. doi: 10.1371/journal.pgen.1001306