X-linked Progressive Retinal Atrophy (XLPRA) – English Cocker Spaniel
Code: H089
Short description
Progressive Retinal Atrophy (XL-PRA) in the English Cocker Spaniel is a heritable disorder caused by an X-linked recessive mutation in the calcium voltage-gated channel subunit alpha 1F (CACNA1F) gene.
General information
Progressive Retinal Atrophy (XL-PRA) in the English Cocker Spaniel is a heritable disorder caused by an X-linked recessive mutation in the calcium voltage-gated channel subunit alpha 1F (CACNA1F) gene. The CACNA1F gene plays an important role in the normal function of retinal photoreceptor cells, which are responsible for detecting light and enabling vision. Mutations in the CACNA1F gene can disrupt photoreceptor function, resulting in progressive degeneration of the retina and a gradual deterioration of vision.
Specifications
| Breeds | |
|---|---|
| Gene | CACNA1F |
| Chromosome | X |
| Mutation | c.4481del |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Recessive |
Clinical features
Affected dogs develop progressive visual impairment as the retina degenerates. Clinical signs may become apparent from approximately three to four years of age, although visual impairment can develop earlier. As the disease progresses, affected dogs may experience increasing difficulty seeing, particularly in conditions with reduced light, followed by more severe loss of vision. The condition can ultimately lead to severe visual impairment or blindness.
References
Pubmed ID: 41882631
Year published: 2026
Omia ID: 3046
Omia variant ID:
Turnaround information
- 15 working days