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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. In the Hungarian Puli, a mutation in the Bardet-Biedl Syndrome 4 (BBS4) gene was found associated with PRA. BBS4 is known to cause Bardet-Biedl Syndrom (BBS) which causes a PRA phenotype.
Clinical features
Clinical signs include night blindness and loss of peripheral vision. In addition to retinal degeneration, in BBS4 affected dogs obesity and affected spermatoza flagella are also observed as symptoms.
Additional information
References
Pubmed ID: 28533336
Omia ID: 2045