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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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Specifications
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
General information
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), 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.
Clinical features
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.
Additional information
The study identifying this mutation in the Pomeranian is still a preliminary publication, and may be subject to change.
References
Pubmed ID: 10393029
Omia ID: 1314