Progressive Retinal Atrophy (erd-PRA) – Norwegian Elkhound
Kodas: H382
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. This early-onset variant of the disease, known as Early Retinal Degeneration (erd-PRA), is found in the Norwegian Elkhound Grey and Black. It is caused by a recessive mutation to the gene STK38L.
Specifications
| Breeds | |
|---|---|
| Gene | STK38L |
| Chromosome | 27 |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | ERD; erd-PRA |
Clinical features
Clinical signs are usually present within the first 10 weeks as poor vision and night blindness.
References
Pubmed ID: 20887780
Year published: 2010
Omia ID: 1297
Omia variant ID:
Turnaround information
- 10 working days