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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, Poméranien, Welsh Corgi Pembroke |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| 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 some scientific evidence that this mutation also occurs in the Pomeranian and Chinese Crested Dog.
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
The study identifying this mutation in the Pomeranian and Chinese Crested Dog is still a preliminary publication, and may be subject to change.
Références
Pubmed ID: 10393029
Omia ID: 1314