Progressive Retinal Atrophy (PRA1 Type B, HIVEP3-related) – Schnauzer
Code: H808
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 form of the disease, known as PRA 1 Type B or as Retinitis Pigmentosa, occurs in the Miniature Schnauzer. The condition is recessive, and is linked to a mutation to the gene HIVEP3.
Specifications
| Breeds | |
|---|---|
| Gene | HIVEP3 |
| Chromosome | 15 |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PRA, type 1 |
Clinical features
Type 1 PRA is a severe form of the disease. The main symptom is a gradual loss of vision, and affected dogs are generally completely blind by the age of 5 years. A veterinary eye examination will reveal the typical signs of PRA, such as increased reflectivity of the retinas.
Additional information
This mutation is strongly associated with the disease, but is not believed to directly cause it.
References
Pubmed ID: 32150541
Year published: 2020
Omia ID: 1311
Omia variant ID:
Turnaround information
- 15 working days