Disease overview

Oculoskeletal dysplasia 2 is a skeletal disease that causes dwarfism, lameness, and vision loss. It is caused by a defect in collagen.

Gene name

COL9A2

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

Citations

Meyers VN, Jezyk PF, Aguirre GD, Patterson DF. Short-limbed dwarfism and ocular defects in the Samoyed dog. J Am Vet Med Assoc. 1983 Nov 1;183(9):975-9. PMID: 12002589.

Disclaimer

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