Other Names: Choroidal hypoplasia, CEA, CH
Inheritance: Autosomal Recessive With Variable Expressivity
Mutation(s): 7.8 kb deletion
Affected Gene(s): NHEJ1
Affected Breed(s): Aussiedoodle, Australian Shepherd, Bearded Collie, Border Collie, Bordoodle, Boykin Spaniel, Collie, English Shepherd, Hokkaido, Lancashire Heeler, Longhaired Whippet, Miniature American Shepherd, Miniature Australian Shepherd, Nova Scotia Duck Tolling Retriever, Old Scotch Collie, Rough Collie, Shetland Sheepdog, Silken Windhound, Smooth Collie, Toy Australian Shepherd

Common Symptoms

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal often leading to retinal detachment and subsequent blindness. The severity of the condition can vary from dog to dog. Mildly affected dogs may have thinning of the choroid with normal vision, while severely affected dogs may have additional eye problems, such as colobomas, retinal detachment, intraocular hemorrhage, and significant vision loss including complete blindness. Because both mild and severe forms of CEA are associated with the same NHEJ1 gene mutation, predicting the potential severity of the disease in an affected dog is difficult e.g., a mildly affected dog may produce offspring that are severely affected.

References

  • Lowe JK, Kukekova AV, Kirkness EF, Langlois MC, Aguirre GD, Acland GM, Ostrander EA. Linkage mapping of the primary disease locus for collie eye anomaly. Genomics. 2003 Jul;82(1):86-95. [PubMed: 12809679]
  • Midshires Bearded Collie Club. [Internet]. Statement on Collie Eye Anomaly in Bearded Collies from the Joint Breed Liaison Committee – December 2013. 21 Feb 2014 [cited 13 June 2014]. Available at http://midshiresbeardedcollieclub.com/Health-Issue-Press-Releases-from-the-Kennel-Club
  • Mizukami K, Chang HS, Ota M, Yabuki A, Hossain MA, Rahman MM, Uddin MM, Yamato O. Collie eye anomaly in Hokkaido dogs: case study. Vet Ophthalmol. 2012 Mar;15(2):128-32. [PubMed: 22051190]
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