Primary Open Angle Glaucoma

Other Names: POA glaucoma
Affected Genes: ADAMTS10
Inheritance: Autosomal Recessive
Mutation: chr20:53096339 (canFam3): G>A

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Common Symptoms

Primary Open Angle Glaucoma is an inherited condition of the eye affecting dogs. Affected dogs typically develop increased eye pressure in both eyes between 8 to 16 months of age. As the pressure in the eye increases, the eyeball increases in size and is painful. Signs of pain in the eye include excessive blinking, tearing and redness. If left untreated, the increased pressure in the eye leads to optic nerve damage and the gradual loss of vision. Most dogs exhibit luxation of the lens of the eye by 2.5 years of age. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation will exasperate the glaucoma and vision loss. Other symptoms may include bulging eyes and cataracts.

Breed-Specific Information for the Carlin Pinscher

Carlin pinscher is included as a breed susceptible to primary open angle Glaucoma because beagle was used as a founder breed in some lines of Carlin pinschers. Beagles are known to develop this disease due to Mutation of the ADAMTS10 gene. The frequency of the causal mutation in the general Carlin pinscher population is unknown.

Testing Tips

Genetic testing of the ADAMTS10 gene in Carlin pinschers will reliably determine whether a dog is a genetic Carrier of primary open angle Glaucoma. Primary Open Angle Glaucoma is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the ADAMTS10 gene mutation. Reliable genetic testing is important for determining breeding practices. Because symptoms may not appear until adulthood, genetic testing should be performed before breeding. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Carlin pinschers that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • Gelatt KN, Peiffer RL Jr, Gwin RM, Gum GG, Williams LW. Clinical manifestations of inherited glaucoma in the beagle. Invest Ophthalmol Vis Sci. 1977 Dec;16(12):1135-42. [PubMed: 924743]
  • 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. [PubMed: 23422823]
  • Kuchtey J, Olson LM, Rinkoski T, MacKay EO, Iverson TM, Gelatt KN, Haines JL, Kuchtey RW. Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma. PLoS Genet. 2011 Feb;7(2):e1001306. [PubMed: 21379321]