02569-MOU: Development of a Polygenic Risk Model for Pigmentary Uveitis in Golden Retrievers

Grant Status: Open

Grant Amount: $89,855
Wendy M. Townsend, DVM, MS; Purdue University
March 1, 2019 - August 31, 2024

Sponsor(s): Golden Retriever Foundation

Breed(s): Golden Retriever
Research Program Area: Ophthalmology
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Pigmentary uveitis (PU) affects 10% of senior Golden Retrievers and often results in blindness due to cataracts and glaucoma. There are no current methods to prevent or reverse the disease. The best options to maintain vision are early detection through annual ophthalmic examinations and early initiation of topical anti-inflammatory therapy. The disease does not develop until eight years of age or older, thus, affected dogs may have already been bred before their PU status is known. Using previous AKC CHF funding, the investigators have established a bank of Golden Retriever DNA and, in an initial genetic analysis, determined that PU involves not just one but multiple genes. The research problem remains to identify involved genes and risk alleles that are associated with PU. The objective of this study is to identify these genes and alleles using genome-wide association studies and whole genome sequencing of severely affected dogs in conjunction with analysis of RNA expression within the iris and ciliary body of affected dogs. Identification of the involved genes and risk alleles will allow for creation of a genetic risk score to quantify an individual’s genetic risk for developing PU, allowing identification of high-risk individuals and intervention prior to the onset of clinical signs. In addition, breeders will have the necessary knowledge to decrease the prevalence of PU.

Funding for the research is provided through the collaborative efforts and generosity of the Golden Retriever Foundation. The AKC Canine Health Foundation supports the funding of this effort and will oversee grant administration and scientific progress.


Townsend, W. M., Huey, J. A., McCool, E., King, A., & Diehl, K. A. (2020). Golden retriever pigmentary uveitis: Challenges of diagnosis and treatment. Veterinary Ophthalmology, 0, 1–11. https://doi.org/10.1111/vop.12796

Jost, H. E., Townsend, W. M., Moore, G. E., & Liang, S. (2020). Golden retriever pigmentary uveitis: Vision loss, risk factors for glaucoma, and effect of treatment on disease progression. Veterinary Ophthalmology. https://doi.org/10.1111/vop.12841

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