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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 | |
|---|---|
| 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
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