Progressive Retinal Atrophy (GR-PRA2)
Kodas: H473
Short description
Progressive Retinal Atrophy (PRA) is a group of hereditary eye diseases characterized by the gradual degeneration of the retina, eventually leading to blindness.
General information
Progressive Retinal Atrophy (PRA) is a group of hereditary eye diseases characterized by the gradual degeneration of the retina, eventually leading to blindness. Multiple genetic mutations have been identified as causes of PRA.
The GR-PRA2 variant of PRA is caused by an autosomal recessive mutation in the Tetratricopeptide Repeat Domain 8 (TTC8) gene, which is essential for the proper function of photoreceptor cells in the retina. The mutation leads to the degeneration of these photoreceptor cells. This gene is also known as Bardet-Biedl Syndrome 8 (BBS8) due to the resemblance with this syndrome in humans. The mutation is observed in the Golden Retriever and Labrador Retriever.
Specifications
| Breeds | |
|---|---|
| Gene | TTC8 |
| Chromosome | 8 |
| Mutation | c.669delA |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GR PRA2 |
Clinical features
Affected dogs usually begin to show signs of vision loss between 4 to 5 years of age. The disease progresses from night blindness to complete blindness as the retinal photoreceptor cells deteriorate over time. Early symptoms may include reluctance to navigate in low-light conditions and bumping into objects.
References
Pubmed ID: 26401321
Year published: 2014
Omia ID: 1984
Omia variant ID:
Turnaround information
- 10 working days