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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 | 24 |
| Mutation | c.452T>G |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | PRA |
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. This specific variant of the disorder, found in the Shih-Tzu, is caused by a recessive mutation to the gene JPH2.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 34231238
Year published: 2021
Omia ID: 2943
Omia variant ID: