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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.
Working days 10
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 early-onset variant of the disease, known as Early Retinal Degeneration (erd-PRA), is found in the Norwegian Elkhound. It is caused by a recessive mutation to the gene STK38L.
Caratteristiche cliniche
Clinical signs are usually present within the first 10 weeks as poor vision and night blindness.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 20887780
Omia ID: 1297