Animal Health Trust validates genetic mutation for blinding condition in Border Collies and promptly launches DNA test.

We are pleased to announce a new DNA test for the genetic mutation causing glaucoma in Border Collies. Glaucoma is a painful and blinding disease associated with high pressure in the eye due to a build-up of fluid.

The condition affects more than a thousand dogs across the UK, and now thanks to the AHT, with funding from Vets4Pets, Border Collie breeders will be able to use this test to reduce the risk of producing glaucoma-affected puppies, whilst maintaining genetic diversity.

The launch of the test comes after a validation process that follows on from work undertaken by scientists at the Roslin Institute in Edinburgh. The Institute described a variant in a gene called OLFML3 reported to be associated with severe goniodysgenesis and glaucoma in Border Collies.

On reading this research, the AHT’s canine genetics team, who has an ongoing research programme looking at canine glaucoma, began to look at how a DNA test could be offered based on the mutation.

Hattie Wright, Vets4Pets Research Assistant, in the laboratories at the Animal Health Trust

Hattie Wright, Vets4Pets Research Assistant at the AHT, genotyped a large cohort of Border Collies for the mutation, in order to obtain an accurate measure of the association between the mutation and goniodysgenesis and glaucoma in the Border Collie. These dogs all had their eyes examined, and their DNA collected, by veterinary ophthalmologist James Oliver, and as such their phenotype was measured consistently.

The charity’s findings from this validation process replicated the findings of the Roslin Institute, so the AHT has been able to develop and launch a DNA test based on the reported OLFML3 mutation.

We’re delighted to offer this test to Border Collie breeders and hope in time, through its use, we can lessen the prevalence of this disease in this lovely breed…

Dr Cathryn Mellersh
Dr Cathryn Mellersh, Head of Canine Genetics

Dr Cathryn Mellersh adds: “Our research has found that the mutation is only associated with glaucoma in Border Collies, so we will publish our data at the earliest opportunity, in the hope that other commercial DNA testing providers will not be tempted to make the DNA test available to breeds other than the Border Collie.”

We are grateful to Vets4Pets for its support of this research.