Progressive Retinal Atrophy (D-PRA, Dominant PRA) – Mastiff
Code: H739
Short description
Progressive Retinal Atrophy (D-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 (D-PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This variant of PRA, known as Autosomal Dominant Progressive Retinal Atrophy (ADPRA), is found in the Bullmastiff and English Mastiff. It is caused by a dominant mutation to the rhodopsine (RHO) gene.
Specifications
| Breeds | |
|---|---|
| Gene | RHO |
| Chromosome | 20 |
| Mutation | c.11C>G |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Dominant |
| Also known as | ADPRA |
Clinical features
Dominant PRA is an eye disorder that causes the rod and cone cells to deteriorate over time, eventually leading to complete blindness. Affected dogs often appear to have clinically normal eyes until about 2-3 years of age, when cells begin to die and vision loss increases. Some puppies show signs of night-blindness at 6 weeks old. Most affected dogs are completely blind at the age of 3-4 years.
References
Pubmed ID: 11972042
Year published: 2002
Omia ID: 1346
Omia variant ID:
Turnaround information
- 15 working days