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Progressive Retinal Atrophy (PRA) is a group of hereditary eye diseases characterized by the gradual degeneration of the retina, eventually leading to blindness.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 8 |
| Mutation | c.669delA |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | GR PRA2 |
Informations générales
Progressive Retinal Atrophy (PRA) is a group of hereditary eye diseases characterized by the gradual degeneration of the retina, eventually leading to blindness. Multiple genetic mutations have been identified as causes of PRA.
The GR-PRA2 variant of PRA is caused by an autosomal recessive mutation in the Tetratricopeptide Repeat Domain 8 (TTC8) gene, which is essential for the proper function of photoreceptor cells in the retina. The mutation leads to the degeneration of these photoreceptor cells. This gene is also known as Bardet-Biedl Syndrome 8 (BBS8) due to the resemblance with this syndrome in humans. The mutation is observed in the Golden Retriever and Labrador Retriever.
Caractéristiques cliniques
Affected dogs usually begin to show signs of vision loss between 4 to 5 years of age. The disease progresses from night blindness to complete blindness as the retinal photoreceptor cells deteriorate over time. Early symptoms may include reluctance to navigate in low-light conditions and bumping into objects.
Additional Information
Références
Pubmed ID: 26401321
Year published: 2014
Omia ID: 1984
Omia variant ID: 949