Retinal Dysplasia/Oculoskeletal Dysplasia 2

General Information: Retinal dysplasia/oculoskeletal dysplasia 2 is a hereditary collagen disorder in dogs, evident by 4 to 6 weeks of age, marked by dwarfism with curved forelimbs and a domed head in affected puppies. Common eye abnormalities include retinal detachment and cataracts, detectable through veterinary exams. While carrier dogs typically do not exhibit skeletal changes, they may have mild eye abnormalities.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the COL9A2 gene can identify carriers of retinal dysplasia/oculoskeletal dysplasia 2, a condition inherited in an autosomal incomplete dominant manner, meaning that inheriting just one mutated gene increases disease risk. Carrier dogs typically do not show skeletal abnormalities but may have mild eye defects such as retinal folds. Breeding two carriers together poses a risk of producing offspring with severe eye and skeletal abnormalities, with a 25% chance of pups inheriting two copies of the mutation and a 50% chance of inheriting one copy. Reliable genetic testing is crucial to prevent producing affected pups, and it is advised to avoid breeding known carriers together. Non-carrier dogs do not have an increased risk of having affected offspring.