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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
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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 |
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 early-onset variant of the disease, known as gPRA or gPRA^SPD, is found in the Schapendoes. It is caused by a recessive mutation to the gene CCDC66. A related variant of gPRA is also found in the Portuguese Water Dog.
Caractéristiques cliniques
Les chiens Schapendoes affectés semblent normaux lorsqu’ils sont jeunes, mais développent une gPRA à un âge d’apparition compris entre 2 et 5 ans. Au début de la maladie, les chiens atteints sont aveugles de nuit, n’ayant pas la capacité d’ajuster leur vision à la lumière tamisée; plus tard, leur vision diurne échoue également. Ce processus de dégénérescence complète des photorécepteurs prend jusqu’à 2 ans.
Additional Information
Références
Pubmed ID: 19777273
Omia ID: 1521