2061: Emergence of Pigmentary Uveitis as a Potential Cause of Cataracts and Glaucoma

Grant Amount: $74,070

Wendy M. Townsend, DVM, MS; Purdue University

January 1, 2014 - June 30, 2018

Sponsor(s): American German Shepherd Dog Charitable Foundation, Inc., Collie Health Foundation, Golden Retriever Foundation, Labrador Retriever Club,Orthopedic Foundation for Animals, Siberian Husky Club of America, Starlight Fund

Breed(s): Golden Retriever

Research Program Area: Ophthalmology

Abstract

Pigmentary uveitis affects 10% of senior Golden Retrievers and frequently results in blindness due to cataracts and/or glaucoma. The pain of glaucoma often leads to removal of the eye. Currently there is no way to prevent or effectively treat pigmentary uveitis. Evidence strongly suggests pigmentary uveitisis an inherited disease: it is observed exclusively in the Golden Retriever breed, and family members (parents/offspring, full- and half-siblings) can be affected. Complicating the phenotype is the fact that most dogs are 8 years or older before developing clinical signs of pigmentary uveitis. Therefore, affected dogs may be used extensively in a breeding program before being diagnosed. This has frustrated conscientious breeders in their efforts to decrease the prevalence of pigmentary uveitis. Dr. Townsend and her team hypothesize that a genome-wide association study (GWAS) will identify a chromosomal region associated with Golden Retriever pigmentary uveitis, and that high-throughput DNA sequencing will allow identification of the causative mutation. Previous CHF funding helped establish a bank of Golden Retriever DNA for use in the present proposal. Identification of the gene responsible for pigmentary uveitiswould permit development of a genetic test whereby affected individuals can be identified at a young age, allowing breeders to make informed breeding decisions. In addition, knowing the molecular basis underlying pigmentary uveitismay allow researchers to develop more effective treatments for dogs already affected by or genetically destined to develop pigmentary uveitis; this could possibly prevent the blindness, cataracts, and glaucoma caused by pigmentary uveitis.

Publication(s)

None at this time.