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Primary Open Angle Glaucoma (POAG) ADAMTS17

General

Disease Name
Primary Open Angle Glaucoma (POAG) ADAMTS17
Disease Name 2
Glaucoma, Primary Open Angle, ADAMTS17-related
OMIA
1976
Gene Name
ADAMTS17
Mutation
g.40,935,387_40,935,392delCGTGGT
Mutation 2
inversion between g.40,812,274 and g.45,768,123
Mutation 3
g.40,614,853_40,614,872del
Mutation 4
p.A387T
Mutation 5
c.1552G>A
Mutation 6
c.1159G>A
Mutation Notes
mutations are breed-specific
Disease Code
POAG
Test Type
Genetic Disease/Disorder
Details
Primary glaucoma is a painful and blinding disease associated with high pressure inside the eye. It is an inherited condition that can come in two forms: primary open angle glaucoma (POAG) and primary closed angle glaucoma (PCAG). Some breeds are known to be at risk of both forms of glaucoma. In both forms, glaucoma results from reduced drainage of fluid from the eye, causing a build-up of pressure which, in turn, leads to pain and blindness. For closed angle glaucoma, a screening technique called gonioscopy (either as part of, or independently of a normal clinical eye exam) can identify dogs at risk.
Details 2
Glaucoma is a heterogeneous disease which is usually associated with defects within the trabecular meshwork (TM) and anterior chamber which lead to obstruction of aqueous humour outflow, elevation of intraocular pressure (IOP) and progressive retinal ganglion cell death and optic nerve degeneration. In humans, glaucoma is the most common cause of irreversible blindness worldwide. Glaucoma is described as primary if it occurs in the absence of any antecedent ocular disease and secondary if it occurs as a result of a concurrent observable ocular condition. Primary glaucoma can be further classified into primary open angle glaucoma (POAG) and primary closed angle glaucoma (PCAG) on the basis of the appearance of the iridocorneal angle. POAG is the more common form of primary glaucoma in man, will affect 58.9 million people by 2020 and is typically characterised by adult onset and chronic IOP-dependent progression (from Oliver et al 2015)
Published
Forman et al., 2015
Published 2
Oliver, J.A., Forman, O.P., Pettitt, L., Mellersh, C.S. : Correction: 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 11:e0156192, 2016. Pubmed reference: 27192202. DOI: 10.1371/journal.pone.0156192.
Published 3
Oliver, J.A.C., Rustidge, S., Pettitt, L., Jenkins, C.A., Farias, F.H.G., Giuliano, E.A., Mellersh, C.S. : Evaluation of ADAMTS17 in Chinese Shar-Pei with primary open-angle glaucoma, primary lens luxation, or both. Am J Vet Res 79:98-106, 2018. Pubmed reference: 29287154. DOI: 10.2460/ajvr.79.1.98.
Body/System/Process
Eye
Inheritance
AR
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