Progressive Retinal Atrophy (MERTK-PRA)
Code: H166
Short description
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.
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.
Specifications
| Breeds | |
|---|---|
| Gene | MERTK |
| Chromosome | 17 |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PRA |
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.
References
Pubmed ID: 28813472
Year published: 2017
Omia ID: 1932
Omia variant ID:
Turnaround information
- 20 working days