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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 | 30 |
| Mutation | c.58A>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | BBS4 |
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. In the Hungarian Puli, a mutation in the Bardet-Biedl Syndrome 4 (BBS4) gene was found associated with PRA. BBS4 is known to cause Bardet-Biedl Syndrom (BBS) which causes a PRA phenotype.
Caractéristiques cliniques
Les signes cliniques comprennent la cécité nocturne et la perte de la vision périphérique. En plus de la dégénérescence rétinienne, chez BBS4, on observe également l’obésité chez les chiens affectés et les flagelles spermatoza affectés comme symptômes.
Additional Information
Références
Pubmed ID: 28533336
Year published: 2017
Omia ID: 2045
Omia variant ID: 356