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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.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 6 |
| Mutation | c.460_463del |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | LCA; CSNB |
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.
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.
Additional information
References
Pubmed ID: 9808841
Year published: 1998
Omia ID: 1222
Omia variant ID: