Progressive Retinal Atrophy Early Onset (eo-PRA) – Spanish Water Dog
Code: H878
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 early-onset variant of PRA (eo-PRA), found in the Spanish Water Dog, is caused by a recessive mutation to the gene PDE6B.
Related disorders are also found in the American Staffordshire Terrier, Irish Setter and Sloughi.
Specifications
| Breeds | |
|---|---|
| Gene | PDE6B |
| Chromosome | 3 |
| Mutation | c.2218-2223del |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PRA; eo-PRA |
Clinical features
This form of PRA has an early onset, with affected dogs beginning to present with vision problems between the age of one and a half years. By the age of four or five years, the loss of vision is significant. Ophthalmological examination will reveal vascular attenuation and tapetal hyperreflectivity.
Additional information
Note that this disorder is not the only possible cause of PRA in the Spanish Water Dog; another variant (PRCD-PRA) exists that is caused by a mutation to the gene PRCD.
References
Pubmed ID: 32639685
Year published: 2020
Omia ID: 2282
Omia variant ID:
Turnaround information
- 15 working days