Progressive Retinal Atrophy (XL-PRA, X-Linked)
Kodas: H772
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, known as X-Linked PRA 1 (XLPRA1 or XL-PRA), is caused by an X-linked semi-dominant mutation to the gene RPGR.
Specifications
| Breeds | |
|---|---|
| Gene | RPGR |
| Chromosome | X |
| Mutation | c.1028_1032delGAGAA |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Incomplete Dominant |
| Also known as | XLPRA1; XL-PRA |
Clinical features
X-linked progressive retinal atrophy (XL-PRA) is characterized by initial degeneration of rod photoreceptors leading to night blindness, followed by loss of cones and progressive atrophy of the inner retina. Male dogs with the mutation are always affected, while female dogs need two mutated alleles in order to show symptoms. The first symptoms can be observed between three and five years of age.
Additional information
Variation in genetic background may alter expression of the disease allele in affected animals, thus accounting for variation in phenotypic expression of the disease.
References
Pubmed ID: 11978759
Year published: 2002
Omia ID: 831
Omia variant ID:
Turnaround information
- 10 working days