Progressive Retinal Atrophy (crd4-PRA/cord1)
Kodas: H766
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 variant of the disease, known as crd4-PRA, or as cord1, occurs in the Dachshund and the English Springer Spaniel. It is caused by an autosomal recessive mutation to the retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) gene.
Specifications
| Breeds | |
|---|---|
| Gene | RPGRIP1 |
| Chromosome | 15 |
| Mutation | c.142_143ins |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | cord1; crd4; PRA-crd4 |
Clinical features
The disorder that primarily affects the retina, leads to the progressive loss of cone and rod photoreceptor cells. Early signs of eye problems can appear by 6 months of age. However, the age at which dogs start to lose their sight varies a lot. On average, sight loss begins around 5 years old. Some dogs may be blind by 6 months, while others can still see at 10 years old.
Additional information
Research demonstrate the interaction of two independent loci (RPGRIP1 and MAP9) contribute to the canine PRA phenotype. To be more specific, a mutation in RPGRIP1 alone does not always appear to be sufficient to cause PRA. An additional mutation in MAP9 may be required for the (full) clinical manifestation of the disease. This suggests a modifying role of MAP9 in the progression of the disease. The mutation in MAP9 is analysed in a separate test.
References
Pubmed ID: 16806805
Year published: 2006
Omia ID: 1432
Omia variant ID:
Turnaround information
- 10 working days