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Oculo-Skeletal Dysplasia (Labrador Retriever Type) Overview

Oculo-Skeletal Dysplasia (Labrador Retriever Type)
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Category: Ophthalmologic - Associated with the eyes and associated structures

Gene: COL9A3 on Chromosome 24

Variant Detected: Insertion of G

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive with Incomplete Penetrance

Test Overview: Retinal dysplasia/oculoskeletal dysplasia 1 is an inherited Collagen disorder. Dwarfism and eye abnormalities may be apparent as early as 4 to 6 weeks of age in puppies that test positive. Dwarfism is characterized by shortened forelimbs that become curved as the dog grows. In puppies, the top of the head may be noticeably dome shaped compared to littermates. A range of eye abnormalities is visible on a veterinary eye exam of which retinal detachment and cataracts are the most common. Carrier dogs do not have skeletal changes but may have mild eye abnormalities, including retinal folds.

Research Citation(s):
Mamm Genome. 2010 August; 21(7-8): 398–408