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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 | 3 |
| Mutation | c.2421G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | rcd1; PRA; PRA-rcd1 |
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 Rod-Cone Dysplasia 1 (rcd1), occurs in the Irish Setter. It is caused by a recessive mutation to the gene PDE6B.
Caractéristiques cliniques
Affected puppies start developing loss of vision in dim light within the first weeks of life, which progressively worsens as the retinas deteriorate. Total blindness by the age of 1 year is likely.
Additional Information
Références
Pubmed ID: 8387203
Year published: 1993
Omia ID: 882
Omia variant ID: 282