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Primary Glaucoma
Test Overview:
An optic neuropathy which affects the retinal ganglion cells and optic nerve. Symptoms are characterized by increased intraocular pressure and this can lead to lens subluxation, cataract and atrophy of the optic nerve.
Category:
Ophthalmologic - Associated with the eyes and associated structures
Gene:
ADAM metallopeptidase with thrombospondin type 1 motif 10 (ADAMTS10) on Chromosome 20
Variant Detected:
Base Substitution c.1441G>A p.Ala387Thr
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Ahonen, SJ. A Novel Missense Mutation in ADAMTS10 in Norwegian Elkhound Primary Glaucoma (2014) PLoS One 9(11); e111941.
Associated Breed(s):
Mixed Breed,