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Progressive Retinal Atrophy (PRA) refers to large group of genetic disorders that cause gradual degeneration of the retina, leading to progressive vision loss.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 13 |
| Mutation | c.1752_1755delAACT |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | PRA, PRA2 |
Informations générales
Progressive Retinal Atrophy (PRA) refers to large group of genetic disorders that cause gradual degeneration of the retina, leading to progressive vision loss. This variant of PRA is specific for the Shetland Sheepdog and is caused by a recessive mutation in the cyclic nucleotide gated channel alpha 1 (CNGA1) gene.
Caractéristiques cliniques
Clinical signs typically begin with night blindness and reduced peripheral vision, which worsen over time and may lead to complete blindness. The age of onset can vary widely. In one study, affected dogs were diagnosed between 2 and 11 years of age, with an average onset around 5 years.
Additional Information
PRA is not the only inherited eye condition seen in Shetland Sheepdogs. Collie Eye Anomaly (CEA) is another retinal disorder known to occur in the breed.
Références
Pubmed ID: 26202106
Year published: 2015
Omia ID: 1977
Omia variant ID: 547