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Stargardt Disease (STGD) is an eye disorder that causes degeneration of the retina, leading to vision loss.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 6 |
| Mutation | c.4176dup |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | STGD 1 |
Informations générales
Stargardt Disease (STGD) is an eye disorder that causes degeneration of the retina, leading to vision loss. This variant of the disorder, Stargardt Disease 1, occurs in the Labrador Retriever, and is caused by a recessive mutation to the gene ABCA4.
Caractéristiques cliniques
Affected dogs develop a degree of vision loss under both brightly and dimly lit conditions, as well as displaying dilated pupils in bright light. Ophthalmological examination will reveal abnormalities such as a hyporeflective retina and vascular attenuation.
Additional Information
Références
Pubmed ID: 30889179
Year published: 2019
Omia ID: 2179
Omia variant ID: 1050