1594: Identifying the Genes Associated with Glaucoma

Grant Status: Closed

Grant Amount: $87,480
Markus H. Kuehn, PhD; University of Iowa
January 1, 2012 - June 30, 2014

Sponsor(s): American Bloodhound Club, Basset Hound Club of America, Inc., Health & Rescue Foundation of the Petit Basset Griffon Vendeen Club of America

Breed(s): English Toy Spaniel, Welsh Terrier, Flat-Coated Retriever, Samoyed, Welsh Springer Spaniel, Petit Basset Griffon Vendeen, Boston Terrier, Bouvier des Flandres, Basset Hound, Miniature Schnauzer, Shiba Inu, Norwegian Elkhound, Dandie Dinmont Terrier, Dalmatian
Research Program Area: Ophthalmology
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Project Summary

The objective of this project was to investigate the genetics underlying the development of Primary Angle Closure Glaucoma (PACG) in the Basset Hound. In addition to understanding how this disease might develop we were also interested in developing a predictive genetic test that might enable breeders to identify those dogs at low risk to develop this disease later in life. While it initially appeared that PACG might be a genetically relatively simple disease our studies soon determined that this is not the case. Our work focused on three groups of animals: two groups of closely related dogs from two different kennels and a third group of unrelated dogs, contributed by community veterinary ophthalmologists. Our findings can be summarized as follows:

1.    A significant share of PACG in Basset Hounds is caused by mutations in the gene NEB
2.    Some Bassets with PACG do not have mutations in this gene which suggests that at least one other gene is involved in these dogs.
3.    We also identified two genetic “risk factors”. These are probably not strong enough to cause PACG by themselves but could influence how early the disease begins or how severe the disease will be.

We have also begun to develop a simple genetic test and will be making this available to breeders in the near future.


Ahram, D. F., Cook, A. C., Kecova, H., Grozdanic, S. D., & Kuehn, M. H. (2014). Identification of genetic loci associated with primary angle-closure. Molecular Vision, 14.
Ahram, D. F., Grozdanic, S. D., Kecova, H., Henkes, A., Collin, R. W. J., & Kuehn, M. H. (2015). Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds. PLOS ONE, 10(5), e0126660. https://doi.org/10.1371/journal.pone.0126660

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