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SIX6-related congenital Eye Malformation in the Golden Retriever is a highly variable eye disease.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
SIX6-related congenital Eye Malformation in the Golden Retriever is a highly variable eye disease. It is caused by an incompletely dominant mutation of the gene SIX6.
Clinical features
Malformation of the eyes due to this disease can take on many specific forms. Symptoms can include visual impairment, nystagmus (wandering eyes), cataracts, retinal detachment and other deformations of the lens, cornea and/or retinas. One or both eyes may be affected.
Additional information
This trait has incomplete penetrance; carriers and and affected animals are likely, but not guaranteed, to present with the described clinical features.
References
Pubmed ID: 31207931
Omia ID: 2208