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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 | Caniche miniature, Caniche standard, Chien d'Arret Danois Ancestral, Polish Lowland Sheepdog, Polish Tatra Sheepdog, Poodle (Toy), Setter Gordon, setter irlandais, Terrier tibétain |
|---|---|
| Gene | |
| Organ | |
| 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. PRA has multiple forms, including Rod-cone-dysplasia type 4 (rcd4-PRA). This form of PRA is caused by an autosomal recessive mutation in the C2orf71 gene and is characterized by late-onset degeneration of vision in dogs.
This form was first identified in Gordon Setters, but has been found in other breeds as well.
Caractéristiques cliniques
The disorder is characterized by late-onset degeneration of photoreceptor cells in the retina. This leads to loss of vision and eventually blindness. Dogs with this disease can start showing signs of visual impairment between 5 and 12 years of age, with an average age of onset of approximately 10 years.
Additional Information
Références
Pubmed ID: 22686255
Omia ID: 1575