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Retinal dysplasia/oculoskeletal dysplasia 1 is an inherited Collagen disorder. Dwarfism and eye abnormalities may be apparent as early as 4 to 6 weeks of age in puppies that test positive. 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.
Ophthalmologic - Associated with the eyes and associated structures
COL9A3 on Chromosome 24
Insertion of G
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Recessive with Incomplete Penetrance
Mamm Genome. 2010 August; 21(7-8): 398–408