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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 | |
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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, found in the Shih-Tzu, is caused by a recessive mutation to the gene JPH2.
Caratteristiche cliniche
Onset of clinical signs in affected dogs occurs in later adulthood, between the ages of 5 and 9 years. Symptoms include a hyper-reflective tapetum and loss of vision. Opthalmologic examination may reveal atrophy of the optic nerve and changes to the pigment of the retina.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 34231238
Omia ID: