The Bouvier Health Foundation has been collaborating since June of 2025 with Dr. Martin Katz at the University of Missouri School of Veterinary Medicine’s Canine Genetics Lab with the goal of identifying the gene(s) responsible for primary closed angle glaucoma( PCAG) in Bouviers. The first phase of the research did whole genome sequencing (WGS) on 10 year old Bouviers affected with glaucoma and their unaffected siblings.  The WGS analysis did not identify a single gene mutation for glaucoma but it did identify a combination of three genes that were present only in the affected dogs and not their unaffected siblings.  Even though the sample size of this phase was very small, the results show promise.

 The second phase is currently underway with WGS analysis of younger Bouviers 2 to 4 years of age. The BHF has recruited 20 dogs for this phase, 9 affected and 12 of their unaffected family members. Analysis of the results of the WGS and review of the pedigrees from this population suggests that PCAG in Bouvier’s is inherited as an autosomal recessive trait. This means that only dogs with two copies of the gene, one from each parent are at risk of developing the disease. The analysis also found specific gene mutations that were present in the affected dogs but not in the unaffected family members. We are in the early stages of our research and the gene mutations found must each be vetted to determine their relevance to the disease.

 There are many questions needing answers. How many genes might be responsible for the development of glaucoma?  How do the genes affect the development of the disease?  Is the later onset of glaucoma a different disease than the one in younger dogs?

 Glaucoma continues to be a problem in Bouviers. The OFA Health Survey has found that glaucoma occurs in about 4% of our breed and this number may be conservative. The genes associated with glaucoma have already been found for several other dog breeds and we are hopeful that our research will lead us to answers for our Bouviers.

 We very much appreciate the donations made to our glaucoma research over the past 2 years. While the research is showing exciting promise, in order to reach our goal we continue to need your financial support and ask that you go to bouvierhealthfoundation.org and make a donation today.

 We are so very grateful for those of you who have volunteered your dogs to be in this project.  It is important that we continue to recruit additional affected Bouvier’s and their unaffected family members.  If you think your dog might be a candidate for our study please contact Nancy Macklin at bouvier.hf.chair@gmail.com.