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H770

Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision.

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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

Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This early-onset variant of the disease, known as Rod-Cone Dysplasia 3 (rcd3, or rcd3-PRA), occurs in the Corgi. It is caused by a recessive mutation to the gene PDE6A.

There is some scientific evidence that this mutation also occurs in the Pomeranian and Chinese Crested Dog.

Clinical features

The main symptom of rcd3 is a progressive loss of vision, which becomes apparent between 6 and 16 weeks of age. Affected dogs are usually blind by the age of 1 year. However, a limited amount of central vision may be retained as late as 3 or 4 years of age.

Additional information

The study identifying this mutation in the Pomeranian and Chinese Crested Dog is still a preliminary publication, and may be subject to change.

References

Pubmed ID: 10393029

Omia ID: 1314

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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