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Primary Open Angle Glaucoma (POAG) is an eye disorder that builds up pressure in the eye and affects the nerves of the retina, causing pain and damaging vision.
Working days 10
Specifiche
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Gene | |
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specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
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Informazioni generali
Primary Open Angle Glaucoma (POAG) is an eye disorder that builds up pressure in the eye and affects the nerves of the retina, causing pain and damaging vision. This variant of the disease, likely caused by a recessive mutation to the gene ADAMTS17, occurs in the Chinese Shar-Pei. The mutation is also associated in this breed with a similar painful eye condition, Primary Lens Luxation (PLL). Similar variants of POAG also occur in the Basset Hound, Petit Basset Griffon Vendéen, and Basset Fauve de Bretagne.
Caratteristiche cliniche
In affected dogs the fibres which support the lens are broken down or disintegrated. As a result, the lens falls into the wrong position within the eye. This results in a loss of vision.
Informazioni aggiuntive
Nello Shar-Pei cinese, una mutazione in ADAMTS17 è stata trovata associata a una diagnosi di POAG, PLL o entrambi. Tuttavia, non è ancora chiaro se questi casi siano PLL classici o rappresentino un processo di malattia cronica con POAG come unica malattia primaria.
Riferimenti
Pubmed ID: 29287154
Omia ID: 1976