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H387

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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Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

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.

Caractéristiques cliniques

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

Références

Pubmed ID: 26407004

Omia ID: 1481

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