Collie Eye Anomaly (CEA)*
Disease
CEA is a hereditary canine ocular disorder in which the pattern of chorioretinal and scleral development is variously disturbed. The major change, which is present in dogs with CEA, is hypoplasia (underdevelopment) of the choroid, an important layer of the eye underlaying the retina. A Coloboma, or hole, may form in or near the optic disc as part of the CEA extended phenotype. The degree of these abnormalities varies between individual dogs ranging from mild disease to complete blindness. The abnormality can be diagnosed at a very young age and is not progressive. However no treatment or cure for CEA exist. The essential features, choroidal hypoplasia and coloboma occur during eye development and become stationary in adult animals. The mutation which has been suggested to cause CEA has been published by the group of Elaine A. Ostrander at the University of Pennsylvania, USA. A 7.8 kb deletion in the NHEJ1 gene co-segregates with CEA across multiple dog breeds. This region spans a highly conserved binding domain for regulatory proteins which are required for several developmental processes.
Breed
Australian Shepherd, Bearded Collie, Border Collie, Boykin Spaniel, Hokkaido, Lancashire Heeler, Longhaired Wippet, Nova Scotia Duck Tolling Retriever, Rough-/Smooth Collie and Shetland Sheepdog
Trait of inheritance
Test duration
4-6 weeks after arrival of the sample in the lab
Material
The DNA test is performed out of EDTA blood or buccal swabs. Required swabs can be ordered free of charge. (Buccal swab order-form). If a swab is sent in, possibly the genetic material is not sufficient to run the test. In this case it would be best to send in an EDTA blood sample.
Testing procedure
Please send in your sample together with the lab order genetic. Results will be transmitted optionally via post, fax or email. After completion of the test you will receive a separate invoice. Payment can be made via credit card or bank transfer.
Breeding club discounts apply if a copy of the membership card is sent together with the respective samples. Due to administrative reasons the invoiced price can not be altered subsequently.
Questiones?
Please contact our molecular biology team for further questions.
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Links
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