Oculoskeletal dysplasia

From Dog

Oculoskeletal dysplasia is an autosomal-recessive genetic disease of dog characterized by cataracts and skeletal deformity, primarily achondroplasia (dwarfism)[1].

This condition has been reported in the Labrador Retriever[2] and Samoyed[3].

Affected dogs have short-limbs and ocular defects including vitreous dysplasia, retinal detachment and cataracts. Heterozygotes have milder ocular disease (retinal folds) but normal skeletal development.

Diagnosis is based on DNA testing, and there is no treatment reported for this condition.


  1. Goldstein O et al (2010) COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome 21(7-8):398-408
  2. Carrig CB et al (1977) Retinal dysplasia associated with skeletal abnormalities in Labrador retrievers. JAVMA 170:49–57
  3. Meyers VN et al (1983) Short-limbed dwarfism and ocular defects in the samoyed dog. JAVMA 183:975–979