Achromatopsia 2 (Day Blindness) – Labrador Retriever
Kodas: H387
Short description
Achromatopsia (ACHM), also called Cone Degeneration Disease (CD), is a degenerative disorder of the retinas that damages cone cells and causes vision loss, colour blindness and sensitivity to light.
General information
Achromatopsia (ACHM), also called Cone Degeneration Disease (CD), is a degenerative disorder of the retinas that damages cone cells and causes vision loss, colour blindness and sensitivity to light. This variant of the disease, known as Achromatopsia-2, is found in the Labrador Retriever. It is caused by a recessive mutation to the gene CNGA3. A related variant of the disorder is also found in the German Shepherd.
Specifications
| Breeds | |
|---|---|
| Gene | CNGA3 |
| Chromosome | 10 |
| Mutation | c.1931_1933delTGG |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | Cone degeneration; hemeralopia |
Clinical features
Affected puppies become almost entirely day-blind by the age of 8 to 10 weeks, though they can still see under low-light conditions. This is likely to present as increased activity during the night, and decreased activity during the day. Symptoms may also include photophobia (increased sensitivity to light) and colour blindness.
References
Pubmed ID: 26407004
Year published: 2015
Omia ID: 1481
Omia variant ID:
Turnaround information
- 10 working days