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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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Specifications
Breeds | |
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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. 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.
Clinical features
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
References
Pubmed ID: 20053974
Omia ID: 881