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H904

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.

Specifications

Breeds

, ,

Gene

Organ

specimen

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

Chromosome

Also known as

Year Published

General information

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 Alaskan Malamute, Siberian Husky and Australian Shepherd. A related variant occurs in the German Shorthaired Pointer.

Clinical features

Extra information

References

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3. Results

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