Progressive Retinal Atrophy (rcd4-PRA)
Kodas: H511
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. PRA has multiple forms, including Rod-cone-dysplasia type 4 (rcd4-PRA). This form of PRA is caused by an autosomal recessive mutation in the photoreceptor cilium actin regulator (PCARE) gene also known as the C2orf71 and C17H2orf71 gene. It is characterized by late-onset degeneration of vision in dogs.
This form was first identified in Gordon Setters, but has been found in other breeds as well.
Specifications
| Breeds | Old Danish Pointer, Polish Lowland Sheepdog, Poodle (Miniature), Poodle (Standard), Poodle (Toy), Polish Tatra Sheepdog, Gordon Setter, Irish Setter, Tibetan Terrier |
|---|---|
| Gene | PCARE |
| Chromosome | 17 |
| Mutation | c.3149_3150insC |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | rcd4; PRA rcd4 |
Clinical features
The disorder is characterized by late-onset degeneration of photoreceptor cells in the retina. This leads to loss of vision and eventually blindness. Dogs with this disease can start showing signs of visual impairment between 5 and 12 years of age, with an average age of onset of approximately 10 years.
References
Pubmed ID: 22686255
Year published: 2013
Omia ID: 1575
Omia variant ID:
Turnaround information
- 10 working days