Primary Open Angle Glaucoma Basset Fauve De Bretagne Type (POAG-4)
Primary Open Angle Glaucoma, POAG
Primary Open Angle Glaucoma Basset Fauve De Bretagne Type (POAG-4) is an inherited eye condition that results in a build up of fluid pressure within the eye and can gradually result in blindness. This mutation leads to a dysfunction in the connective tissue in the eye that blocks aqueous fluid leading to increased pressure and gradual damage to the optic nerve and retina. Symptoms can include widened pupils, red eyeballs, and cloudy cornea. Raised eye pressure can cause pain leading to loss of appetite, eye scratching, head rubbing, and aggressive behavior. Clinical diagnosis by a veterinary ophthalmologist can typically be done between 4-7 years of age. If diagnosed early, treatment to decrease eye pressure can prevent optic nerve and retinal damage. The POAG-4 mutation is currently thought to be uniquely found in the Basset Fauve de Bretagne breed.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop primary open angle glaucoma nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop primary open angle glaucoma but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with this disease and are likely to develop primary open angle glaucoma leading to blindness.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
ADAMTS17
Chromosome
Ch. 3
Mutation
chr3:40,808,345: G>A
Publication:
Oliver JA, Forman OP, Pettitt L, Mellersh CS. Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog. PLoS One. 2015 Oct 16;10(10). [PubMed: 26474315].
