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Congenital Stationary Night Blindness 2 (CSNB2) is a genetic retinal disorder characterized by impaired vision in low light conditions.
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Specifiche
| Razza | American Trotter, Americano da sella (American Saddlebred), Cavallo delle Montagne Rocciose (Rocky Mountain Horse), Cavallo miniatura, Missouri Fox Trotter, Morgan, Quarter Horse americano, Tennessee Walking Horse |
|---|---|
| Gene | |
| Cromosoma | 14 |
| Mutation | c.533C>T |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Pelo, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | CSNB2 |
Informazioni generali
Congenital Stationary Night Blindness 2 (CSNB2) is a genetic retinal disorder characterized by impaired vision in low light conditions. It is caused by an autosomal recessive mutation in the metabotropic glutamate receptor 6 (GRM6) gene, which is essential for transmitting visual signals from rod photoreceptors to ON-bipolar cells in the retina. The mutation disrupts signal transmission in dim light, resulting in night blindness despite a structurally normal eye.
This disorder is distinct from the Leopard Complex (LP)/Appaloosa-associated form of night blindness and was first identified in a Tennessee Walking Horse. The variant has since been reported in additional breeds.
Caratteristiche cliniche
Affected horses have normal vision in daylight but show difficulty seeing in low-light or dark conditions. Clinical signs are typically present from birth, although they may become more noticeable as young horses begin navigating unfamiliar environments. Horses may hesitate to move in poorly lit areas, appear anxious when entering dark spaces, struggle to detect obstacles at dusk or night, and may be at increased risk of accidental injury in low-light conditions.
CSNB2 is non-progressive and does not worsen over time. It does not affect overall health or lifespan, but it may impact management and safety in environments with limited lighting.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 32654228
Year published: 2021
Omia ID: 2692
Omia variant ID: 1552