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Primary Open Angle Glaucoma    POAG-NE Test    Code 311

For breeds: Norwegian Elkhound

Clinical signs/Disease description:
Primary Open Angle Glaucoma in Norwegian Elkhound dogs (POAG-NE) is and inherited disease that is characterized by increased intraocular pressure (IOP) and subsequently by serious ocular pathology that can include lens subluxation, cataracts and optic nerve atrophy. The disease is commonly diagnosed in middle-aged or elderly dogs (the average age of diagnosis is 6.5 years) when it starts to affect dog's hunting abilities.

POAG-NE mutation test:
A novel mutation in ADAMTS10 gene, different from previously identified mutation in the same gene that causes POAG in Beagles, has been found to be associated with POAG in Norwegian Elkhound (1). So far this mutation has been detected in this breed only, with an estimated carrier frequency of 25% based on a large number of samples collected form dogs originated from Finland, Sweden, United Kingdom and United States.

A DNA test for the POAG-NE mutation is now available and may be used by breeders to decrease the mutant allele frequency in the population of Norwegian Elkhounds.

The POAG-NE test allows to determine genotype of a tested dog as being Homozygous Normal, Carrier or Homozygous Affected.

Testing/Breeding Recommendations:
Primary Open Angle Glaucoma in Norwegian Elkhounds is an autosomal recessive condition, therefore only individuals that have two copies of the ADAMTS10 mutation, inherited from both parents, have a higher risk of developing clinical signs of the disease.  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 Breeding strategy chart for autosomal recessive diseases below.

Expected results for breeding strategies using the
POAG-NE 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. Ahonen SJ, Kaukonen M, Nussdorfer FD, Harman CD, Komaromy AM and H Lohi. A novel missense mutation in ADAMTS10 in Norwegian Elkhound Primary Glaucoma. 2014. PLoS ONE, 9(11),e111941.

 

 


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