Retinal Dysplasia/Oculoskeletal Dysplasia 1

Other Names: Dwarfism with retinal dysplasia 1, Inherited retinal dysplasia, Oculoskeletal dysplasia 1, Retinal dysplasia, DRD1, OSD1, RD, RD/OSD
Affected Genes: COL9A3
Inheritance: Autosomal Incomplete Dominant
Mutation: Insertion

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Common Symptoms

Retinal dysplasia/oculoskeletal dysplasia 1 is an inherited Collagen disorder affecting dogs. Dwarfism and eye abnormalities may be apparent as early as 4 to 6 weeks of age in affected puppies. The dwarfism is characterized by shortened forelimbs that become curved as the dog grows. In puppies, the top of the head may be noticeably dome shaped compared to littermates. A range of eye abnormalities is visible on a veterinary eye exam of which retinal detachment and cataracts are the most common. Carrier dogs do not have skeletal changes but may have mild eye abnormalities, including retinal folds.


Breed-Specific Information for the Australian Labradoodle

Australian labradoodle is included as a breed susceptible to retinal dysplasia/oculoskeletal dysplasia 1 because of its close relatedness to the Labrador retriever, which is known to develop this disease due to Mutation of the COL9A3 gene. The frequency of the causal mutation in the general Australian labradoodle population is unknown.


Testing Tips

Genetic testing of the COL9A3 gene in Australian labradoodles will reliably determine whether a dog is a genetic Carrier of retinal dysplasia/oculoskeletal dysplasia 1. Retinal dysplasia/oculoskeletal dysplasia 1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing the disease. In general, carrier dogs will not display skeletal abnormalities associated with this disorder, but carrier dogs frequently have mild eye defects (e.g. retinal folds). When bred with another carrier of the same Mutation, there is a risk of having pups with severe eye and skeletal abnormalities. Each pup that is born to this pairing has a 25% chance of inheriting two copies of the mutation and developing the severe form of the disease and a 50% chance of inheriting one copy and being at risk for retinal folds. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Australian labradoodles that are not carriers of the mutation have no increased risk of having affected pups.


References

  • 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. [PubMed: 20686772]