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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 | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| 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 early-onset variant of the disease, known as Early Retinal Degeneration (erd-PRA), is found in the Norwegian Elkhound Grey and Black. It is caused by a recessive mutation to the gene STK38L.
Caractéristiques cliniques
Les signes cliniques sont habituellement présents dans les 10 premières semaines comme mauvaise vision et cécité de nuit.
Additional Information
Références
Pubmed ID: 20887780
Omia ID: 1297