€57,48 €47,50 hors TVA
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.
10 working days
Excl €5,95 shipping and administration per order (incl. VAT)
Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 20 |
| Mutation | c.3176G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | PRA; IFT122-PRA |
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 particular variant of PRA, found in the Lapponian Herder, is caused by a recessive mutation to the gene IFT122.
Caractéristiques cliniques
Affected dogs start gradually losing vision in adulthood, presenting with typical ophthalmological signs of PRA such as hyperreflectivity of the retina. Past 9 years of age, PRA becomes more apparent, and may result in total blindness.
Additional Information
Références
Pubmed ID: 33606121
Year published: 2021
Omia ID: 2320
Omia variant ID: