02145-A: Prevention of Glaucoma and Goniodysgenesis through Genetic Profiling of Disease

Grant Status: Closed

Grant Amount: $12,960
Cathryn S Mellersh, PhD; Animal Health Trust
November 1, 2014 - October 31, 2015


Breed(s): Welsh Springer Spaniel
Research Program Area: Ophthalmology
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Primary glaucoma is a painful and blinding disease associated with high pressure inside the eye. Glaucoma affects over 40 breeds of dogs worldwide, at least 1500 dogs in the UK each year and in the USA as many as 15,000 dogs per year could be affected. Treatment is usually unsuccessful and most affected dogs ultimately require removal of their eyes on welfare grounds. The most common form of canine glaucoma is primary angle closure glaucoma (PACG) which is known to be significantly associated with goniodysgenesis, an abnormality affecting the drainage angle of the eye. PACG and goniodysgenesis are prevalent in several breeds, and goniodysgenesis has been demonstrated to be highly heritable. Not all dogs with goniodysgenesis develop glaucoma, indicating that more than one mutation is probably involved. This complex inheritance and the progressive nature of goniodysgenesis mean that breeding strategies based on eye examinations alone probably won't be sufficient to eliminate the disease. Goniodysgenesis and PACG affect Welsh Springer Spaniels (WSS) in both Europe and the USA and are of considerable concern to breeders on both continents. Dr. Mellersh and colleagues have collected DNA from WSSs with goniodysgenesis, PACG and with healthy eyes and now aim to compare the DNA from these three cohorts of dogs to identify region(s) of the DNA that harbor mutations responsible for goniodysgenesis and PACG. This is an essential first step towards their ultimate aim which to identify causal genetic mutations and develop DNA tests for multiple breeds that will enable disease prevalence to be effectively reduced.


None at this time.

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