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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 | |
| Organ | |
| specimen | Écouvillon, EDTA sanguin, Héparine sanguine, Sperme, Tissu |
| 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 variant of the disease, known as Early-Onset Cone-Rod Dystrophy (crd4-PRA), or as cord1, occurs in the Miniature Longhaired Dachshund and the English Springer Spaniel. It is caused by a recessive mutation to the gene RPGRIP1.
Caractéristiques cliniques
Cécité éventuelle dans les individus affectés.
Additional Information
La mutation sur le RPGRIP1 est testée, pas sur MAP9.
Références
Pubmed ID: 16806805
Omia ID: 1432