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H457

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.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

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.

Clinical features

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.

Additional information

In Chinese Shar-Pei, a mutation in ADAMTS17 was found to be associated with a diagnosis of POAG, PLL or both. However, it is not yet clear whether these cases are classic PLL or represent a chronic disease process with POAG as the only primary disease.

References

Pubmed ID: 29287154

Omia ID: 1976

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3. Results

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