Progressive Retinal Atrophy (g-PRA) – Schapendoes
Code: H915
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 early-onset variant of the disease, known as gPRA or gPRA^SPD, is found in the Schapendoes. It is caused by a recessive mutation to the gene CCDC66. A related variant of gPRA is also found in the Portuguese Water Dog.
Specifications
| Breeds | |
|---|---|
| Gene | CCDC66 |
| Chromosome | 20 |
| Mutation | c.521_522InsA |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | gPRA^SPD; gPRA; EOPRA; PRA |
Clinical features
Affected Schapendoes dogs appear normal when young, but develop gPRA at an age of onset between 2-5 years. Early in the disease, affected dogs are night-blind, lacking the ability to adjust their vision to dim light; later, their daytime vision also fails. This process of complete photoreceptor degeneration takes up to 2 years.
References
Pubmed ID: 19777273
Year published: 2010
Omia ID: 1521
Omia variant ID:
Turnaround information
- 15 working days