Progressive Retinal Atrophy (rcd2-PRA) (External Lab) – Collie Type
Kodas: H801
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 is known as Rod-Cone Dysplasia type 2 (rcd2, or rcd2-PRA). Rcd2 is an autosomal recessive disorder, caused by a splicing mutation in the RD3 gene, that occurs in collies.
Specifications
| Breeds | |
|---|---|
| Gene | RD3 |
| Chromosome | 7 |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | rcd2; PRA-rcd2 |
Clinical features
Night blindness is the first clinical sign, which can already be detected in 6 weeks old collies. The retinal dysfunction can be detected in 16 days old dogs by electroretinography. By the age of 2-2,5 months underdeveloped segments are visible. Both rods and cones are not developed in the outer segments. Therefore, the outer segments disappear in the affected retina. The rods en cones will degenerate, cones slower than rods. By the age of 6 to 8 months the dogs become completely blind.
Additional information
This test is performed by an external laboratory. CombiBreed takes care of the mediation between you as a customer and the external laboratory. In this case, CombiBreed cannot be held liable for the behaviour of the client and/or contractor.
References
Pubmed ID: 19130129
Year published: 2009
Omia ID: 1260
Omia variant ID:
Turnaround information
- 25 working days
- This test is performed by an external laboratory.
- CombiBreed takes care of the mediation between you as a customer and the external laboratory.