Primary Open Angle Glaucoma (POAG) / Primary Lens Luxation (PLL) – Shar-Pei
Kodas: H457
Short description
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.
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/Shar Pei/Sharpei. 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.
Specifications
| Breeds | |
|---|---|
| Gene | ADAMTS17 |
| Chromosome | 3 |
| Mutation | c.3069_3074del |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | POAG |
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 result is 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
Year published: 2018
Omia ID: 1976
Omia variant ID:
Turnaround information
- 10 working days