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Cone-Rod Dystrophy (CRD) is a disorder of the photoreceptor cells of the eye, which can lead to early-onset blindness in affected dogs.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 3 |
| Mutation | c.2404_2406del |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | crd1-PRA |
Informations générales
Cone-Rod Dystrophy (CRD) is a disorder of the photoreceptor cells of the eye, which can lead to early-onset blindness in affected dogs. This variant of the disorder, Cone-Rod Dystrophy, Type 1 (crd1, or crd1-PRA) is found in the American Staffordshire Terrier. It is caused by a recessive mutation to the gene PDE6B. A similar variant of the disease, called crd2, occurs in the Pit Bull Terrier.
Caractéristiques cliniques
Affected dogs have progressively degenerating retinas, which grow thinner and more “ragged” within the first few months after birth. They will display severe vision impairment in both well-lit and dimly-lit conditions, which can progress to more severe blindness within the first year of age.
Additional Information
Références
Pubmed ID: 24045995
Year published: 2013
Omia ID: 1674
Omia variant ID: 528