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Dog DNA testing illustration

Stargardt disease 1

Code: H907

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

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

General information

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.

Specifications

Breeds

Labrador Retriever
Gene

ABCA4
Chromosome

6
Mutation

c.4176dup
Organ

Sensory organs
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

STGD 1

Clinical features

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.

References

Pubmed ID: 30889179

Year published: 2019

Omia ID: 2179

Omia variant ID:

Turnaround information

  • 15 working days