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H357

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

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

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

Omia ID: 1674

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