Primary Open Angle Glaucoma and Primary Lens Luxation (Shar Pei Type)

Other Names: POAG/PLL
Affected Genes: ADAMTS17
Inheritance: Autosomal Recessive
Mutation: chr3:40935387-40935393 (canFam3): 6 bp deletion (del CGTGGT)

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Common Symptoms

Primary open angle Glaucoma and primary lens luxation (shar-pei type) is an inherited eye disease affecting Shar-Pei dogs. Affected dogs present before 6 years of age with excessive eye pressure resulting in enlargement of the eye and pain that is poorly responsive to treatment. Signs of pain in the eye include excessive blinking, tearing and redness. If left untreated, the increased pressure leads to bulging eyes, optic nerve damage and the gradual loss of vision. In addition, affected dogs may also be predisposed to dislocation (luxation) of the lens in the eye which may exacerbate glaucoma.


Breed-Specific Information for the Shar-Pei

The Mutation of the ADAMTS17 gene associated with Primary Open Angle Glaucoma and Primary Lens Luxation (Shar Pei Type) has been identified in the Shar-Pei, although its overall frequency in this breed is unknown.


Testing Tips

Genetic testing of the ADAMTS17 gene in the Shar-Pei will reliably determine whether a dog is a genetic Carrier of primary open angle Glaucoma and primary lens luxation (shar-pei type). Primary open angle glaucoma and primary lens luxation (shar-pei type) 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 ADAMTS17 gene mutation. Reliable genetic testing is important for determining breeding practices. Because symptoms do 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. Shar-Pei dogs 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

  • Oliver JAC, Rustidge S, Pettitt L, Jenkins CA, Farias FGH, Giuliano EA, Mellersh CS. Evaluation of ADAMTS17 in Chinese Shar-Pei with primary open-angle glaucoma, primary lens luxation, or both. Am J Vet Res. 2018 Jan;79(1):98-106. doi: 10.2460/ajvr.79.1.98. [PubMed: 29287154]