Progressive Retinal Atrophy (GR-PRA1)
Kodas: H868
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 specific variant of the disorder is found in the Golden Retriever, and is therefore called Golden Retriever PRA (GR-PRA1). It is caused by a recessive mutation to the gene SLC4A3.
Specifications
| Breeds | |
|---|---|
| Gene | SLC4A3 |
| Chromosome | 37 |
| Mutation | c.2601_2602insC |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GR_PRA; PRA1 |
Clinical features
Clinical signs include night blindness and loss of peripheral vision.
References
Pubmed ID: 21738669
Year published: 2011
Omia ID: 1572
Omia variant ID:
Turnaround information
- 10 working days