Progressive Retinal Atrophy (Bas-PRA, SAG-related) – Basenji
Kodas: H371
Short description
Progressive retinal atrophy (PRA) is an autosomal recessive hereditary eye disorder leading to degeneration of the photoreceptor cells of the retina.
General information
Progressive retinal atrophy (PRA) is an autosomal recessive hereditary eye disorder leading to degeneration of the photoreceptor cells of the retina. The form of adult-onset PRA in the Basenji (Bas-PRA, SAG-related) is characterised by photoreceptor degeneration causing progressive vision loss, culminating in blindness. It is caused by a recessive mutation to the gene SAG.
Specifications
| Breeds | |
|---|---|
| Gene | SAG |
| Chromosome | 25 |
| Mutation | c.1216T>C |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PRA |
Clinical features
Initial symptoms are visual loss in dim light (night blindness), which gradually progresses to total blindness. Unless the dog is used for high visual performance tasks such as agility work, the reduction in the visual field (tunnel vision) may not be noticed. Despite tunnel vision and night blindness, many affected Basenjis retain adequate forward daylight vision for many years, sometimes for their entire natural life.
References
Pubmed ID: 24019744
Year published: 2013
Omia ID: 1876
Omia variant ID:
Turnaround information
- 10 working days