Collie Eye Anomaly/Choroidal Hypoplasia

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Non-homologous end joining factor 1 (NHEJ1) on chromosome 37

Variant Detected:

chr37:25698028-25705826 (canFam3): 7.8 kb deletion

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive with Incomplete Penetrance

Recommended Screening:

1. Check for this as part of routine puppy eye examination (with a veterinary eye specialist) at 6-8 weeks of age. 2. Screen all breeding animals via DNA test prior to breeding – e.g. at 1 year of age.

Research Citation(s):

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]

Associated Breed(s):

Australian Kelpie, Australian Shepherd, Bearded Collie , Border Collie, Boykin Spaniel, Collie Rough, Collie Smooth, Koolie , Lancashire Heeler, Miniature American Shepherd, Mixed Breed, Old English Sheepdog , Shetland Sheepdog, Smithfield, Whippet ,