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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.

10 Arbeidsdager

Spesifikasjoner

Breeds

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Gene

Organ

specimen

Svaber, EDTA blod, heparinblod, sæd, vev

Mode of Inheritance

Chromosome

Also known as

Year Published

Generell informasjon

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 also scientific evidence that this mutation can be a factor explaining retinal signs in the Chinese Crested and German Spitz (Pomeranian) breeds.

Kliniske egenskaper

The main symptom of rcd3 is a progressive loss of vision, which becomes apparent between 6 and 16 weeks of age. Affected dogs can be blind by the age of 1 or keep a limited amount of vision until 3 or 4 years of age.

Tilleggsinformasjon

Referanser

Pubmed ID: 10393029

Omia ID: 1314

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