Achromatopsia 2 (Day Blindness) – German Shepherd
Kodas: H386
Short description
Achromatopsia or Cone Degeneration Disease (CD) is a disease that is caused by degeneration of retinal cone cells.
General information
Achromatopsia or Cone Degeneration Disease (CD) is a disease that is caused by degeneration of retinal cone cells. Cone cells can register colour and are important for adjustment of the eyes when they are exposed to bright light.
Specifications
| Breeds | |
|---|---|
| Gene | CNGA3 |
| Chromosome | 10 |
| Mutation | c.1270C>T |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | Cone degeneration; hemeralopia |
Clinical features
Dogs affected with Achromatopsia or Cone Degeneration Disease (CD) suffer from day blindness due to degeneration of the retinal cones. The disease appears at a young age. The pups will become day-blind and are photophobic – meaning that exposure to bright light is irritating or even painful. The pup will seek areas with dimmer light.
References
Pubmed ID: 26407004
Year published: 2015
Omia ID: 1481
Omia variant ID:
Turnaround information
- 10 working days