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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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Specifiche
| Breeds | Pomerania, Cardigan Welsh Corgi, Chinese Crested Dog, Welsh Corgi Pembroke |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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.
Caratteristiche cliniche
The main symptom of rcd3 is a progressive loss of vision, which becomes apparent between 6 and 16 weeks of age. Affected dogs are usually blind by the age of 1 year. However, a limited amount of central vision may be retained as late as 3 or 4 years of age.
Informazioni aggiuntive
The study identifying this mutation in the Pomeranian and Chinese Crested Dog is still a preliminary publication, and may be subject to change.
Riferimenti
Pubmed ID: 10393029
Omia ID: 1314
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