Retinal Dysplasia/Oculoskeletal Dysplasia 1

General Information: Retinal Dysplasia/Oculoskeletal Dysplasia 1 is a genetic disorder that affects dogs, leading to eye problems and skeletal abnormalities. Puppies as young as 4 to 6 weeks may show signs such as dwarfism characterized by shortened and curved forelimbs, and a dome-shaped head. Common eye issues include retinal detachment and cataracts, which are detectable during veterinary eye exams. While carrier dogs do not exhibit skeletal changes, they may have mild eye abnormalities, such as retinal folds.

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 of the COL9A3 gene can determine if a dog is a carrier of Retinal Dysplasia/Oculoskeletal Dysplasia 1. This disorder is inherited in an autosomal incomplete dominant manner, meaning a dog only needs one copy of the mutated gene to be at risk. Carrier dogs typically do not show skeletal abnormalities but often have mild eye defects. Breeding two carriers can result in puppies with severe eye and skeletal issues, with a 25% chance of affected pups and a 50% chance of carriers. To avoid producing affected puppies, it is recommended not to breed two carriers. Dogs that test negative for the mutation do not have an increased risk of producing affected offspring.