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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.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
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.
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.
Additional information
References
Pubmed ID: 26407004
Omia ID: 1481