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H918

Achromatopsia (sometimes referred to as Cone Degeneration or Hemeralopia) is an eye disorder that can cause day blindness, sensitivity to light and a loss of colour vision.

10 working days

Caractéristiques

Breeds

Gene

Organ

specimen

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

Chromosome

Also known as

Year Published

Informations générales

Achromatopsia (sometimes referred to as Cone Degeneration or Hemeralopia) is an eye disorder that can cause day blindness, sensitivity to light and a loss of colour vision. This particular form of the disorder is known as Achromatopsia-3, and is caused by a recessive mutation to the gene CNGB3. The variant analysed in this test occurs in the German Shorthaired Pointer. A related variant has been found in the Alaskan Malamute, Siberian Husky and Australian Shepherd.

Caractéristiques cliniques

Affected dogs generally begin displaying symptoms of day blindness and photophobia (sensitivity to bright light) between the ages of 8 and 12 weeks. Only the dog’s bright-light vision is affected; vision remains normal in dim light.

Additional Information

Références

Pubmed ID: 12140185

Omia ID: 1676

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