Collie eye anomaly in Hokkaido dogs: case study

Vet Ophthalmol. 2012 Mar;15(2):128-32. doi: 10.1111/j.1463-5224.2011.00950.x. Epub 2011 Sep 29.


Objective: To describe a Hokkaido dog, one of the traditional Japanese breeds that was affected by Collie eye anomaly (CEA), and to report the genotype of this dog and the Hokkaido dog allelic frequency of the CEA-associated mutation.

Case: A nine-month-old intact female Hokkaido dog without any obvious visual disturbance was diagnosed ophthalmoscopically with CEA. Severe choroidal hypoplasia was observed in the bilateral temporal area adjacent to the optic nerve head, appearing as whitish areas. Therefore, the dog was suspected of possessing the CEA-associated mutation that was previously reported as an intronic 7.8-kilo base deletion in the canine NHEJ1 gene.

Procedures: SYBR Green-based real-time PCR with a melting curve analysis, conventional PCR with agarose gel electrophoresis, and direct DNA sequencing were carried out to determine the genotype of the dog. Furthermore, a preliminary genotyping survey was carried out in 17 Hokkaido dogs from three kennels using the real-time PCR method, and the pedigree relationships were analyzed using their pedigree papers.

Results: The Hokkaido dog affected by CEA was proven to possess the CEA-associated mutation. Of these 17 Hokkaido dogs, 12 dogs were heterozygous carriers and five dogs were affected by this mutation. The preliminary genotyping survey and pedigree analysis demonstrated that the allelic frequency of the CEA-associated mutation is very high in Hokkaido dogs.

Conclusion: These data suggest that the Hokkaido breed is highly susceptible to CEA because of the known CEA-associated mutation much like the Collie-related breeds.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • DNA / genetics
  • DNA Repair Enzymes / genetics
  • DNA-Binding Proteins / genetics
  • Dog Diseases / genetics
  • Dog Diseases / pathology*
  • Dogs
  • Eye Diseases / genetics
  • Eye Diseases / pathology
  • Eye Diseases / veterinary*
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Pedigree


  • DNA-Binding Proteins
  • DNA
  • DNA Repair Enzymes