Disease overview

Oculoskeletal dysplasia 1 is a skeletal disease that causes dwarfism, lameness and vision loss. It is caused by a defect in collagen.

Gene name

COL9A3

Inheritance

Autosomal recessive

Signs and symptoms

Early onset of clinical signs appear around 4-6 weeks of age. They include short limbs and an enlarged skull. Eye changes (often to green) may occur, and/or hyperreflectivity of the eye accompanied by vision loss. Dogs may present with lameness and early-onset arthritis.

How is it diagnosed

Thorough examination of the eyes and clinical signs. A veterinary ophthalmologic exam can determine if there are changes in the eye that have or will lead to vision loss. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Goldstein O, Guyon R, Kukekova A, Kuznetsova TN, Pearce-Kelling SE, Johnson J, Aguirre GD, Acland GM. COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome. 2010 Aug;21(7-8):398-408. doi: 10.1007/s00335-010-9276-4. Epub 2010 Aug 5. PMID: 20686772; PMCID: PMC2954766.

Stavinohova R, Hartley C, Burmeister LM, Ricketts SL, Pettitt L, Tetas Pont R, Hitti RJ, Schofield E, Oliver JAC, Mellersh CS. Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog. PLoS One. 2019 Aug 15;14(8):e0220761. doi: 10.1371/journal.pone.0220761. PMID: 31415586; PMCID: PMC6695176.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.