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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.
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Specifiche
| Breeds | German Spitz (Pomeranian), Cardigan Welsh Corgi, Chinese Crested Dog, Welsh Corgi Pembroke |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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 German Spitz (Pomeranian) and Chinese Crested Dog.
Caratteristiche cliniche
Il sintomo principale di rcd3 è una progressiva perdita della vista, che diventa evidente tra le 6 e le 16 settimane di età. I cani affetti possono essere ciechi all'età di 1 anno o mantenere una quantità limitata di vista fino a 3 o 4 anni di età.
Informazioni aggiuntive
The study identifying this mutation in the German Spitz (Pomeranian) and Chinese Crested Dog is still a preliminary publication, and may be subject to change.
Riferimenti
Pubmed ID: 10393029
Omia ID: 1314