Progressive Retinal Atrophy (rcd3-PRA)
Code: H770
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 3 (rcd3, or rcd3-PRA), occurs in the Corgi. It is caused by a recessive mutation to the gene PDE6A.
There is also scientific evidence that this mutation can be a factor explaining retinal signs in the Chinese Crested and German Spitz (Pomeranian) breeds.
Specifications
| Breeds | Chinese Crested, German Spitz (Pomeranian), Cardigan Welsh Corgi, Pembroke Welsh Corgi |
|---|---|
| Gene | PDE6A |
| Chromosome | 4 |
| Mutation | c.1940delA |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | rcd3; PRA-rcd3 |
Clinical features
The main symptom of rcd3 is a progressive loss of vision, which becomes apparent between 6 and 16 weeks of age. Affected dogs can be blind by the age of 1 or keep a limited amount of vision until 3 or 4 years of age.
References
Pubmed ID: 10393029
Year published: 1999
Omia ID: 1314
Omia variant ID:
Turnaround information
- 15 working days