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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | E2 |
| Mode of Inheritance | Autosomique dominante |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | Rdy |
Informations générales
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. The specific variant of the disorder analysed in this test, Rod–Cone Dysplasia (rdy-PRA) causes a rare form of early-onset blindness.
rdy-PRA in cats is caused by a dominant mutation to the gene CRX. It has been observed in the Abyssinian, Somali and Savannah breeds.
Caractéristiques cliniques
Rdy-affected cats have retarded development and degeneration of the photoreceptor cells. Affected kittens show signs of progressive vision loss, including slowed pupillary reflexes, within the first four months of life.
Additional Information
Références
Pubmed ID: 20053974
Year published: 2010
Omia ID: 881
Omia variant ID: 916