€57,48 €47,50 IVA no incluido
Collie Eye Anomaly (CEA), also known as choroidal hypoplasia, is a congenital developmental disorder affecting the development of the choroid, a vascular layer of the eye beneath the retina.
10 días laborables
Especificaciones
| Breeds | Collie áspero, Pastor americano en miniatura, Pastor Australiano, Perro Pastor Shetland (Sheltie), Smooth collie, Bearded Collie, Border Collie, Boykin Spaniel, Hokkaido, Lancashire Heeler, Nova Scotia Duck Tolling Retriever, Whippet |
|---|---|
| Gene | |
| Chromosome | 37 |
| Mutation | c.588+462_588+8260del |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | cea; CEA/CH |
Información específica de la prueba
Collie Eye Anomaly (CEA), also known as choroidal hypoplasia, is a congenital developmental disorder affecting the development of the choroid, a vascular layer of the eye beneath the retina. It is primarily found in Collie-related dogs such as the Collie, Border Collie, Australian Shepherd and Shetland Sheepdog. CEA is caused by a recessive mutation in the NHEJ1 gene and can lead to structural abnormalities in the eye that may impair vision or result in blindness.
Características clínicas
CEA is present from birth and typically affects both eyes, although the severity may differ between them. Clinical signs can include underdeveloped or sunken eyes, a cloudy or dull appearance to the eyes, and varying degrees of vision loss. In more severe cases, additional abnormalities such as colobomas (optic nerve pits, parts of the eye are missing), retinal detachment, or intraocular bleeding may occur. Diagnosis is typically made through ophthalmologic examination by a veterinarian.
Información adicional
This genetic variant is not considered causative in certain breeds, such as the Danish Rough Collie and the Nova Scotia Duck Tolling Retriever.
Referencias
Pubmed ID: 17916641
Year published: 2007
Omia ID: 218
Omia variant ID: 632