Retinal Dysplasia/Oculoskeletal Dysplasia (RD/OSD) is a hereditary disease present in Labrador retriever breed. Affected dogs have skeletal abnormalities characterized by short-limbed dwarfism and ocular defects including vitreous dysplasia, retinal detachment and cataracts. This phenotype segregates as an autosomal recessive trait. Obligate heterozygotes may exhibit a mild ocular phenotype that ranges from vitreal strands and/or localized retinal dysplasia characterized by focal or multifocal retinal folds, to large plaques of dysplastic retinal tissue, but have a normal appendicular skeleton.
Inheritance: autosomal recessive - read more
Mutation: COL9A3 gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.