Progressive Retinal Atrophy (PAP-PRA1)
Code: H348
Short description
Progressive Retinal Atrophy (PRA) is a gradual progressive degeneration of the photoreceptor cells in the retina, causing gradual vision loss, eventually leading to blindness.
General information
Progressive Retinal Atrophy (PRA) is a gradual progressive degeneration of the photoreceptor cells in the retina, causing gradual vision loss, eventually leading to blindness. It is a non-painful condition that tends to progress slowly over time. There are multiple mutations found to cause PRA. This variant of PRA explains approximately 70% of PRA cases in the Papillon and Phalène and is caused by a recessive mutation to the CNGB1 gene.
Specifications
| Breeds | |
|---|---|
| Gene | CNGB1 |
| Organ | Sensory organs |
| Specimen | Copan eNAT swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Chromosome | 2 |
| Also known as | PAP PRA1 |
| Year Published | 2013 |
Clinical features
Affected dogs have a primary loss of the rod photoreceptor cells, followed by loss of cone cell function. The first clinical signs are seen as difficulties in the dim light. The disease progresses very slowly and the affected dogs seem to be visually normal throughout their life, as the cone function is fairly well preserved. Over time there is an increased reflectivity of the eyes. This variant of PRA is typically diagnosed around 4 years of age.
Additional information
The variant analysed in this test does not explain all cases of PRA in these breeds. This means there are potentially other mutations that cause PRA in the Papillon and Phalène.
References
Pubmed ID:
Omia ID: 830
Turnaround information
- 15 working days