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Retinal Dysplasia/Oculoskeletal Dysplasia 1

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Test Overview:

Oculoskeletal Dysplasia affects dogs and is an inherited disorder. This specific disorder generally affects the Labrador Retriever and Samoyed dog breeds. Dogs affected with this disorder may present with shorter forelimbs, ocular defects or retinal detachment.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

COL9A3

Variant Detected:

c.10_11insG

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a dog is a carrier for Oculoskeletal Dysplasia.

Research Citation(s):

Goldstein, Orly et al. “COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia” Mammalian genome : official journal of the International Mammalian Genome Society vol. 21,7-8 (2010): 398-408.

Associated Breed(s):

Australian Labradoodle , Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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