Progressive Retinal Atrophy (IFT122-PRA) – Lapponian Herder
Kodas: H962
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 particular variant of PRA, found in the Lapponian Herder, is caused by a recessive mutation to the gene IFT122.
Specifications
| Breeds | |
|---|---|
| Gene | IFT122 |
| Chromosome | 20 |
| Mutation | c.3176G>A |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PRA; IFT122-PRA |
Clinical features
Affected dogs start gradually losing vision in adulthood, presenting with typical ophthalmological signs of PRA such as hyperreflectivity of the retina. Past 9 years of age, PRA becomes more apparent, and may result in total blindness.
References
Pubmed ID: 33606121
Year published: 2021
Omia ID: 2320
Omia variant ID:
Turnaround information
- 10 working days