Progressive Retinal Atrophy (PRA, NECAP1-related) – Schnauzer
Code: H682
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 variant, known as PRA 5, is found in the Schnauzer, and is caused by a recessive mutation to the NECAP1 gene.
Specifications
| Breeds | |
|---|---|
| Gene | NECAP1 |
| Chromosome | 27 |
| Mutation | c.544G>A |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PRA |
Clinical features
Progressive retinal atrophy (PRA) in dogs is characterised by the degeneration of the photoreceptor cells of the retina, resulting in vision loss and eventually complete blindness. The condition affects more than 100 dog breeds and is known to be genetically heterogeneous between breeds.
Additional information
A large number of varieties of PRA are currently known to affect several breeds.
References
Pubmed ID: 31117272
Year published: 2019
Omia ID: 2198
Omia variant ID:
Turnaround information
- 15 working days