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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.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 29 |
| Mutation | complete deletion |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | Cone degeneration; Hemeralopia |
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 Alaskan Malamute, Siberian Husky and Australian Shepherd. A related variant occurs in the German Shorthaired Pointer.
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
Year published: 2002
Omia ID: 1365
Omia variant ID: 631