Progressive Retinal Atrophy (BBS4-PRA) – Hungarian Puli
Kodas: H394
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. In the Hungarian Puli, a mutation in the Bardet-Biedl Syndrome 4 (BBS4) gene was found associated with PRA. BBS4 is known to cause Bardet-Biedl Syndrom (BBS) which causes a PRA phenotype.
Specifications
| Breeds | |
|---|---|
| Gene | BBS4 |
| Chromosome | 30 |
| Mutation | c.58A>T |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | BBS4 |
Clinical features
Clinical signs include night blindness and loss of peripheral vision. In addition to retinal degeneration, in BBS4 affected dogs obesity and affected spermatoza flagella are also observed as symptoms.
References
Pubmed ID: 28533336
Year published: 2017
Omia ID: 2045
Omia variant ID:
Turnaround information
- 10 working days