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Progressive Retinal Atrophy (PRA) is a large group of hereditary eye diseases that cause loss of vision in various breeds of dogs.
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Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
Progressive Retinal Atrophy (PRA) is a large group of hereditary eye diseases that cause loss of vision in various breeds of dogs. Vision loss is caused by gradually degeneration of cells in the retina over time, causing a progressive loss of vision. This variant of PRA affects Labrador Retrievers and is caused by an autosomal recessive mutation in the GTPBP2 gene. Mutations in this gene are associated with Jaberi-Elahi syndrome (JES), a neurodevelopmental disorder, in humans and with neurodegeneration in mice.
Kliniske egenskaper
Dogs affected by GTPBP2-related PRA develop progressive vision loss, which can include difficulty tracking moving objects and eventually blindness. In some affected Labradors, clinical signs were observed between about 11 months and 1.5 years of age. In addition, some affected dogs might start to more heavily rely on other senses, such as smell.
Tilleggsinformasjon
Referanser
Pubmed ID: 39971978
Omia ID: 2926