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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 | Cardigan Gallois Corgi, Chinois à crête, German Spitz (Pomeranian), Welsh Corgi Pembroke |
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Gene | |
Organ | |
specimen | Écouvillon, EDTA sanguin, Héparine sanguine, 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 Rod-Cone Dysplasia 3 (rcd3, or rcd3-PRA), occurs in the Corgi. It is caused by a recessive mutation to the gene PDE6A.
There is also scientific evidence that this mutation can be a factor explaining retinal signs in the Chinese Crested and German Spitz (Pomeranian) breeds.
Caractéristiques cliniques
The main symptom of rcd3 is a progressive loss of vision, which becomes apparent between 6 and 16 weeks of age. Affected dogs can be blind by the age of 1 or keep a limited amount of vision until 3 or 4 years of age.
Additional Information
Références
Pubmed ID: 10393029
Omia ID: 1314