Progressive Retinal Atrophy (rcd1-PRA) – Irish Setter
Kodas: H768
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 Rod-Cone Dysplasia 1 (rcd1), occurs in the Irish Setter. It is caused by a recessive mutation to the gene PDE6B.
Specifications
| Breeds | |
|---|---|
| Gene | PDE6B |
| Chromosome | 3 |
| Mutation | c.2421G>A |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | rcd1; PRA; PRA-rcd1 |
Clinical features
Affected puppies start developing loss of vision in dim light within the first weeks of life, which progressively worsens as the retinas deteriorate. Total blindness by the age of 1 year is likely.
References
Pubmed ID: 8387203
Year published: 1993
Omia ID: 882
Omia variant ID:
Turnaround information
- 10 working days