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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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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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, found in the Papillon and Phalène, is caused by a recessive mutation to the gene CNGB1. The mutation is estimated to account for approximately 70% of PRA cases in these breeds.
Caratteristiche cliniche
Affected dogs display typical symptoms of PRA, including night blindness, sudden bouts of apparent clumsiness, other signs of vision loss and increased reflectivity of the eyes. This variant of PRA is typically diagnosed around 4 years of age.
Informazioni aggiuntive
The variant analysed in this test is not the only possible cause of PRA in the Papillon and Phalène.
Riferimenti
Pubmed ID:
Omia ID: 830
Prodotti correlati
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- Standard Schnauzer
- TSEN54
- Sistema nervoso
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- Norwegian Lundehund
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H869
Fecundity
- Entlebucher Mountain Dog
- GDF9
- Sistema riproduttivo
-
- Cane Corso
- PPT1
- Sistema nervoso
