Collie eye anomaly (CEA)
Summary
Collie eye anomoaly (CEA) can cause total or partial blindness and occasionally bleeding inside the eye. It is also called choroidal hypoplasia.
The choroid is a layer of tissue under the retina with lots of blood vessels. In dogs with CEA it does not develop properly. In most cases the abnormal choroid is present at birth and can be seen in an eye examination at 4-8 weeks of age.
CEA is an autosomal recessive disorder. Autosomal disorders are equally likely to affect male or female dogs, while "recessive" means that a dog needs to inherit the CEA mutation from both its parents to be affected. Some dogs that inherit the CEA mutation from both parents are unaffected. This is why we categorise this test as a marker rather than a causative mutation.
Gene or region and technical reference
Gene: NHEJ1 (marker). Reference: Parker et al. (2017)
Reported alleles
n. Test developed using manufactured DNA, animal controls.
CEA. Test developed using manufactured DNA, animal cases.
Panels: groups of tests that are often ordered together
This test is in the Australian Kelpie panel.
This test is in the working dog core panel.
