02243-A: Genomic Profiling of Canine Corneal Endothelial Dystrophy

Grant Status: Closed

Grant Amount: $12,960
Sara M Thomasy, DVM, PhD; University of California, Davis
January 1, 2016 - December 31, 2017

Sponsor(s): Boston Terrier Club of America, Inc., German Shorthaired Pointer Club of America, German Wirehaired Pointer Club of America

Breed(s): -All Dogs
Research Program Area: Ophthalmology
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Corneal endothelial dystrophy (CED) is a disease in dogs that can result in blindness and ocular pain. The endothelial cells comprise the most inner aspect of the cornea and are responsible for maintaining a proper fluid balance and thus corneal transparency. In dogs with CED, the endothelial cells degenerate prematurely until the remaining cells no longer function properly. This results in corneal swelling, and secondary vision compromise and corneal ulceration. The only definitive treatment for CED is a corneal transplant. Unfortunately, corneal transplants are rarely performed in canine patients with CED due to the expense of the surgery and follow-up care, high risk of complications, and lack of appropriate donor tissue. Several dog breeds including Boston Terriers , German Shorthaired Pointers and German Wirehaired Pointers are seen more commonly for CED in comparison to other breeds. This observation suggests that this disease may have a genetic basis. A similar condition called Fuchs endothelial corneal dystrophy (FECD) occurs in humans and several genes associated with FECD have been identified. This project will investigate the genetics of CED in dogs, and will include thorough eye examinations and advanced ocular imaging as well as extraction of DNA from blood collected from dogs with CED and age-matched controls. The entire canine genome will be evaluated for an association with CED. This work will be used to identify the gene(s) responsible for this condition in these 3 breeds and to develop a genetic test for CED.


Shull, O. R., Reilly, C. M., Davis, L. B., Murphy, C. J., & Thomasy, S. M. (2018). Phenotypic Characterization of Corneal Endothelial Dystrophy in German Shorthaired and Wirehaired Pointers Using In Vivo Advanced Corneal Imaging and Histopathology: Cornea, 37(1), 88–94. https://doi.org/10.1097/ICO.0000000000001431

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