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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
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| 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. 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.
Caratteristiche cliniche
I segni clinici includono cecità notturna e perdita della visione periferica. Oltre alla degenerazione retinica, nel BBS4 i cani affetti obesità e la flagella spermatoza colpita sono osservati anche come sintomi.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 28533336
Omia ID: 2045