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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 | |
|---|---|
| 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 particular variant of PRA, found in the Lapponian Herder, is caused by a recessive mutation to the gene IFT122.
Caratteristiche cliniche
Affected dogs start gradually losing vision in adulthood, presenting with typical ophthalmological signs of PRA such as hyperreflectivity of the retina. Past 9 years of age, PRA becomes more apparent, and may result in total blindness.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 33606121
Omia ID: 2320