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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 | |
|---|---|
| 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. The specific variant of the disease analysed in this test is known as MERTK-PRA and is found in the Swedish Vallhund. It is caused by an autosomal recessive mutation to the MER proto-oncogene, tyrosine kinase (MERTK) gene.
Clinical features
The symptoms of this form of Progressive Retinal Atrophy (PRA) can be divided into stages, with rod cells being affected first. This leads to vision deficits in low-light conditions, also known as night blindness. Affected dogs show symptoms that progress at varying rates, and early signs can be detected during a veterinary eye exam as early as 2 months of age. One of the initial signs includes changes in the reflectivity and appearance of the tapetum, a structure located behind the retina. As the disease advances, further vision loss occurs, with an average age of onset reported between 4 and 6 years. However there are known cases with an onset ranging from 1 to 12 years of age.
Additional information
References
Pubmed ID: 28813472
Omia ID: 1932