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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 particular variant of PRA, found in the Lapponian Herder, is caused by a recessive mutation to the gene IFT122.
Clinical features
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.
Additional information
References
Pubmed ID: 33606121
Omia ID: 2320