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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 form of the disease, known as PRA 1 Type B or as Retinitis Pigmentosa, occurs in the Miniature Schnauzer. The condition is recessive, and is linked to a mutation to the gene HIVEP3.
Caratteristiche cliniche
Type 1 PRA is a severe form of the disease. The main symptom is a gradual loss of vision, and affected dogs are generally completely blind by the age of 5 years. A veterinary eye examination will reveal the typical signs of PRA, such as increased reflectivity of the retinas.
Informazioni aggiuntive
This mutation is strongly associated with the disease, but is not believed to directly cause it.
Riferimenti
Pubmed ID: 32150541
Omia ID: 1311