Collie Eye Anomaly

Other Names: Choroidal hypoplasia, CEA, CH
Affected Genes: NHEJ1
Inheritance: Autosomal Recessive With Variable Expressivity
Mutation: chr37:25698028-25705826 (canFam3): 7.8 kb deletion

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Common Symptoms

Collie Eye Anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds including the Hokkaido dog. 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. The severity of the condition can vary from dog to dog. In mild cases, affected dogs may only show signs of collie eye anomaly on eye exam between about 5 and 12 weeks of age, just prior to normal, age-related pigmentation of the retina which often masks the characteristic, disease-related changes. After this time period, mildly affected dogs may be impossible to distinguish from normal dogs on eye exam (a phenomenon often referred to as “going normal”) and may not display obvious vision deficits. In more severely affected dogs, clinical signs include malformations of the eye and/or optic nerve (colobomas), retinal detachment, intraocular bleeding, and subsequent blindness. Both mild and severe forms of CEA are associated with the same NHEJ1 gene Mutation. Therefore, predicting the potential severity of the disease in an affected puppy is difficult as mildly affected parents may produce offspring that are severely affected.

Breed-Specific Information for the Hokkaido

The Mutation of the NHEJ1 gene associated with collie eye anomaly has been identified in the Hokkaido. Though the frequency in the overall Hokkaido population is unknown, one study from Japan showed a significant number of dogs with this mutation.

Testing Tips

Genetic testing of the NHEJ1 gene in Hokkaido dogs will reliably determine whether a dog is a genetic Carrier of collie eye anomaly. Collie Eye Anomaly is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the NHEJ1 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Hokkaido dogs that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • Brown EA, Thomasy SM, Murphy CJ, Bannasch DL. Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation). Vet Ophthalmol. 2017 Jul 12. doi: 10.1111/vop.12488. [PubMed: 28702949]
  • 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]
  • Munyard KA, Sherry CR, Sherry L. A retrospective evaluation of congenital ocular defects in Australian Shepherd dogs in Australia. Vet Ophthalmol. 2007 Jan-Feb;10(1):19-22. [PubMed: 17204124]
  • Parker HG, Kukekova AV, Akey DT, Goldstein O, Kirkness EF, Baysac KC, Mosher DS, Aguirre GD, Acland GM, Ostrander EA. Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Res. 2007 Nov; 17(11):1562-71. [PubMed: 17916641]
  • Walser-Reinhardt L, Hassig M, Spiess B. Schweiz Arch Tierheilkd. Collie Eye Anomaly in Switzerland. 2009 Dec;151(12):597-603. [PubMed: 19946851]