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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 | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
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 specific variant of the disorder, known as X-Linked PRA 1 (XLPRA1 or XL-PRA), is caused by an X-linked semi-dominant mutation to the gene RPGR.
Caractéristiques cliniques
X-linked progressive retinal atrophy (XL-PRA) is characterized by initial degeneration of rod photoreceptors leading to night blindness, followed by loss of cones and progressive atrophy of the inner retina. Male dogs with the mutation are always affected, while female dogs need two mutated alleles in order to show symptoms. The first symptoms can be observed between three and five years of age.
Additional Information
La variation du fond génétique peut changer l’expression de l’allèle de la maladie chez les animaux affectés, de ce fait expliquant la variation de l’expression phénotypique de la maladie.
Références
Pubmed ID: 11978759
Omia ID: 831