Background
Achromatopsia or Cone Degeneration Disease (CD) is a rare disease causing day blindness due to degeneration of the retinal cones. CD in affected dogs can be diagnosed in the early weeks of the life. The pups become day-blind and are photophobic ? meaning that exposure to bright light is irritating or even painful. The pup will shun brightly-lit areas. In contrast to PRA (Progressive Retinal Atrophy), which is the more common type of retinal disease in many dog breeds, CD does not affect night vision.
Test specific information
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Age
Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
This disease mainly affects vision, and may result in blindness.
Breed dependence
This DNA test is available for the following breeds: German Shepherd.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Tissue, Semen, Swab. Please contact PharmaDNA if you wish to submit other material as listed.
Result
An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.
Inheritance
This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous). Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.
Severity of Disease
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