Collie Eye Anomaly CEA, CH
Code: H705
Short description
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.
General information
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.
Specifications
| Breeds | Smooth Collie, Australian Shepherd, Bearded Collie, Border Collie, Boykin Spaniel, Hokkaido, Lancashire Heeler, Miniature American Shepherd, Nova Scotia Duck Tolling Retriever, Rough Collie, Shetland Sheepdog, Whippet |
|---|---|
| Gene | NHEJ1 |
| Chromosome | 37 |
| Mutation | c.588+462_588+8260del |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | cea; CEA/CH |
Clinical features
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.
Additional information
This genetic variant is not considered causative in certain breeds, such as the Danish Rough Collie and the Nova Scotia Duck Tolling Retriever.
References
Pubmed ID: 17916641
Year published: 2007
Omia ID: 218
Omia variant ID:
Turnaround information
- 15 working days