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Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 15 |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | PRA, type 1 |
Informations générales
Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This form of the disease, known as PRA 1 Type B or as Retinitis Pigmentosa, occurs in the Miniature Schnauzer. The condition is recessive, and is linked to a mutation to the gene HIVEP3.
Caractéristiques cliniques
Type 1 PRA is a severe form of the disease. The main symptom is a gradual loss of vision, and affected dogs are generally completely blind by the age of 5 years. A veterinary eye examination will reveal the typical signs of PRA, such as increased reflectivity of the retinas.
Additional Information
This mutation is strongly associated with the disease, but is not believed to directly cause it.
Références
Pubmed ID: 32150541
Year published: 2020
Omia ID: 1311
Omia variant ID: