Progressive Retinal Atrophy (rcd1a-PRA) – Sloughi
Kodas: H769
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 specific variant of the disorder, known as Rod-Cone Dysplasia 1a (rcd1a or rcd1a-PRA), is caused by a recessive mutation to the gene PDE6B. It is found in the Sloughi.
Specifications
| Breeds | |
|---|---|
| Gene | PDE6B |
| Chromosome | 3 |
| Mutation | c.2448_2449insTGAAGTCC |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | rcd1a; rcd1a-PRA |
Clinical features
rcd1a-PRA is characterised by poor dark vision, visual field defects which can progress to blindness over a period of time.
References
Pubmed ID: 11124530
Year published: 2000
Omia ID: 1669
Omia variant ID:
Turnaround information
- 10 working days