€57,48 €47,50 hors TVA
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.
10 working days
Excl €5,95 shipping and administration per order (incl. VAT)
Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 6 |
| Mutation | c.460_463del |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | LCA; CSNB |
Informations générales
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.
Caractéristiques cliniques
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
Références
Pubmed ID: 9808841
Year published: 1998
Omia ID: 1222
Omia variant ID: 468