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Oculoskeletal Dysplasia 1 (OSD1) is a genetic disorder characterized by dwarfism and retinal dysplasia (RD), potentially leading to joint deformities and vision loss.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
Oculoskeletal Dysplasia 1 (OSD1) is a genetic disorder characterized by dwarfism and retinal dysplasia (RD), potentially leading to joint deformities and vision loss. It can be caused by a recessive mutation in the collagen, type IX, alpha 3 (COL9A3) gene and has been identified specifically in the Labrador Retriever. COL9A3 plays an essential role in healthy cartilage and eye development. Therefore, a mutation in this gene can lead to skeletal and ocular abnormalities. A related variant also occurs in the Northern Inuit Dog, Tamaskan and British Timber Dog breeds.
Kliniske egenskaper
OSD1 affected dogs typically present a range of skeletal abnormalities. These include disproportionate dwarfism, where the limbs are noticeably shorter relative to the body size, as well as shortened and misshapen long bones. Additional musculoskeletal signs can include joint laxity, pain or discomfort in movement, and the development of early-onset osteoarthritis. In some cases, spinal deformities may also be observed.
Ocular abnormalities are another concern in dogs with this mutation. One common issue is retinal dysplasia, a condition where the retina does not develop normally. This can lead to retinal detachment, impaired vision, or blindness in more severe cases. Other eye-related changes may include vitreous degeneration, where the gel-like substance inside the eye breaks down, and the formation of cataracts, potentially further impacting vision.
Tilleggsinformasjon
Denne testen er basert på en assosiasjonsstudie. Sammenheng mellom genetisk variant og sykdom er ikke fullstendig bekreftet.
Referanser
Pubmed ID: 20686772
Omia ID: 1522