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Dog DNA testing illustration

Congenital Stationary Night Blindness (CSNB) – Briard

Code: H728

74,72 €

Sample details

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

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Short description

Leber Congenital Amaurosis (LCA), also named Retinal Pigment Epithelial Dystrophy, is an eye disorder that results in the degeneration of the retina, causing degraded vision and night blindness.

General information

Leber Congenital Amaurosis (LCA), also named Retinal Pigment Epithelial Dystrophy, is an eye disorder that results in the degeneration of the retina, causing degraded vision and night blindness. The disorder is specific to the Briard, and is caused by a recessive mutation to the gene RPE65.

Specifications

Breeds

Briard
Gene

RPE65
Chromosome

6
Mutation

c.460_463del
Organ

Sensory organs
Specimen

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

Autosomal Recessive
Also known as

LCA; CSNB

Clinical features

Affected dogs have diminished low-light vision, needing bright light to see properly. The disease is slowly progressive, gradually causing additional degeneration of the retina, which can be diagnosed through eye examinations such as electroretinography.

References

Pubmed ID: 9808841

Year published: 1998

Omia ID: 1222

Omia variant ID:

Turnaround information

  • 15 working days