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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 | 2 |
| Mutation | c.1222G>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | BBS2-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 variant of PRA, known as Bardet-Biedl Syndrome Type 2 (BBS2-PRA), occurs in the Shetland Sheepdog. The variant is caused by a recessive mutation to the gene BBS2.
Caractéristiques cliniques
Affected dogs present in adulthood (approximately between the ages of 8 and 10 years) with a progressive decline in vision, starting with night vision and followed by daylight vision. Additionally, the disorder can cause unusual physical features such as an upturned nose, a wavy coat and dental abnormalities such as loose teeth.
Additional Information
Références
Pubmed ID: 34828377
Year published: 2021
Omia ID: 2484
Omia variant ID: