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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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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
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Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 24045995
Omia ID: 1674