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H907

Stargardt Disease (STGD) is an eye disorder that causes degeneration of the retina, leading to vision loss.

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Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

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.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 30889179

Omia ID: 2179

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