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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
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Gene | |
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specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
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 specific variant of the disorder is found in the Golden Retriever, and is therefore called Golden Retriever PRA (GR-PRA1). It is caused by a recessive mutation to the gene SLC4A3.
Caratteristiche cliniche
I segni clinici includono cecità notturna e perdita della visione periferica.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 21738669
Omia ID: 1572