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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 | 10 |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | PRA; PRA3 |
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 variant of PRA, Progressive Retinal Atrophy type 3, occurs in the Tibetan Spaniel and Tibetan Terrier. It is associated with by a recessive mutation to the gene FAM161A.
Caractéristiques cliniques
Affected dogs generally show the first signs of night blindness between three and seven years of age. After the initial signs present, the disease can progress rapidly, often leading to complete loss of vision within one year. Opthalmological examination can reveal thinning of the retinas.
Additional Information
The mutation in this test is a risk factor, and has not yet been established as the sole cause of the disorder.
Références
Pubmed ID: 24705771
Year published: 2014
Omia ID: 1918
Omia variant ID: 925