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Primary Open Angle Glaucoma (POAG) is an inherited eye condition characterized by a gradual, sustained increase in intraocular pressure due to impaired drainage of fluid within the eye.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 3 |
| Mutation | c.1721+2668_*4831255inv |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | POAG |
Informazioni generali
Primary Open Angle Glaucoma (POAG) is an inherited eye condition characterized by a gradual, sustained increase in intraocular pressure due to impaired drainage of fluid within the eye. This variant of the disease, caused by a recessive mutation in the ADAMTS17 gene, occurs in the Petit Basset Griffon Vendéen.
Similar variants have also been identified in the Basset Fauve de Bretagne, Basset hound, and the Chinese Shar-Pei.
Caratteristiche cliniche
Affected dogs develop persistently elevated intraocular pressure, usually beginning in around 3–4 years of age. Early stages may show subtle or no obvious signs. As the condition progresses, clinical signs can include dilated pupils, redness of the eye, corneal clouding, and partial displacement of the lens (lens subluxation).
With sustained elevation of intraocular pressure, degeneration of the retina and optic nerve occurs, leading to progressive vision impairment and eventual blindness. In advanced stages, the increased pressure becomes painful and may result in reduced appetite, lethargy, rubbing or scratching at the eyes, and behavioral changes due to discomfort. If left uncontrolled, the condition can result in permanently blind and painful eyes.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 26683476
Year published: 2015
Omia ID: 1976
Omia variant ID: 1086