Disease overview

Collie Eye Anomaly is an eye condition also known as choroidal hypoplasia. The choroid is a structure in the eye that anchors the retina to the underlying structures, providing it with oxygen and nutrients. The severity of this disease ranges from no visual impairment at all to complete vision loss. This is an early onset disease that affects puppies from 6-8 weeks of age.

Gene name

NHEJ1

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs may present with no obvious vision loss at all to a complete loss of vision. Signs typical of vision loss. These include changes in behavior, such as reluctance to go down stairs or into a dark room, or bumping into door frames and furniture. There may be signs of change in the tapetum, the reflective surface of the eye. This is an early onset disease that affects puppies from 6-8 weeks of age.

How is it diagnosed

Thorough examination of the eyes and clinical signs. A veterinary ophthalmologic exam can determine if there are changes in the eye that have or will lead to vision loss. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Alaskan Sled Dog, , , , , , Longhaired Whippet, , Polar Husky, Rough Collie, , , , Smooth Collie

Citations

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. doi: 10.1101/gr.6772807. Epub 2007 Oct 4. PMID: 17916641; PMCID: PMC2045139.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.