Primary Open Angle Glaucoma (POAG) ADAMTS17

g.40,935,387_40,935,392delCGTGGT

inversion between g.40,812,274 and g.45,768,123

Genetic Disease/Disorder

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.

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)

Forman et al., 2015

Shar Pei