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Achromatopsia or Cone Degeneration Disease (CD) is a disease that is caused by degeneration of retinal cone cells.

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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 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.

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.

Additional information

References

Pubmed ID: 26407004

Omia ID: 1481

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