Border Collie Goniodysgenesis and Glaucoma Database

1st June 2018

The Roslin Institute have published their research into severe goniodysgenesis and glaucoma in the Border Collie

Animal Genetics have now launched a DNA test for the detection of
Goniodysgenesis and Glaucoma Susceptibility in the Border Collie


Goniodysgenesis and Glaucoma Susceptibility -Border Collie


Goniodysgenesis is a condition cause by the abnormal and incomplete development of the anterior chamber which can result in excessive pressure buildup in the eye.  If the condition remains untreated, increased pressure in the eye will eventually result in permanent damage to the optic 
nerve and blindness.

Most forms of glaucoma can be placed into two categories, primary and secondary. The term primary glaucoma is used to describe those types of glaucoma caused by an inherited physical or physiological trait that an animal has been predisposed to based on genetics. These traits are generally recessive and passed down from one generation to the next.

Secondary glaucoma is a term referred to when the disease is triggered by something other than genetics. Trauma in the eye can cause bleeding, swelling, and inflammation to occur. As the eye heals, scar tissue may form, impacting the normal drainage of fluid resulting in increased pressure in the eye.

More than 40 dog breeds are genetically predisposed to goniodysgenesis including the Flatcoated Retriever, Welsh Springer Spaniel, Cocker Spaniel, American Cocker Spaniel, English Springer Spaniel, Basset Hound, Border Collie, Golden Retriever, Leonberger and Dandie Dinmont Terrier. Unfortunately, a large percentage of dogs affected by glaucoma will become blind in the affected eye within the first year, regardless of medical or surgical treatment.

Symptoms associated with primary glaucoma include: Severe pain, sensitivity to light, winking spasms, eye appears to have fallen into the socket, raised third eyebrow, dog winces when you touch his or her head, watery eyes, behavioral change (hiding, refusal to eat), red eye, and dilated pupils.

The discovery of a genetic variant on the OLFML3 gene was performed at The Roslin Institute, University of Edinburgh and the Mater Research Institute-UQ, Brisbane Australia. The individuals credited for this work are Kim M Summers, Ailsa J Carlisle, Carys A Pugh and Lindsay L Farrell.  Based on this discovery, Animal Genetics develop an assay to detect the genetic variant associated with Border Collie Glaucoma.  A paper will be published outlining all of the work.


Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at Canine Test Now.


Animal Genetics offers DNA testing for Glaucoma susceptibility in Border Collies. The genetic test verifies the presence of the recessive mutation and presents results as one of the following:

G/G - Affected:
The dog carries two copies of the mutant gene and is homozygous for the OLFML3 mutation associated with BCG. The dog is very susceptible to developing glaucoma and will always pass a copy of the mutation to its offspring.

N/G - Carrier:
One copy of the OLFML3 mutation associated with BCG. Dog is a carrier and can pass on a copy of the defective gene to its offspring 50% 0f the time.

N/N - Clear:
Sample tested negative for the OLFML3 mutation associated with BCG, and will not pass on the defective gene to its offspring.

The PBHF are delighted to announce that after many years of research the Pre-Disposition to Glaucoma DNA test is now commercially available via Animal Genetics. The discounted cost via a PBHF clinic is £30. The recommendations are to not breed from affected stock and for carriers to only be mated to clears. Due to the number of carriers found it is not recommended that all carriers are removed from breeding programs as this may decimate genetic diversity within the breed. The test was officially launched at Scottish and Wessex Border Collie Club open shows on 19th and 20th May and is also available via post by contacting

Addtional Information on Research

18th April 2016

I'm the researcher working on the DNA with Prof. Kim Summers at the Roslin Institute.

Our next step is whole genome sequencing of dogs.

We have selected some that are unaffected, some that have severe goniodysgenesis and some that have developed glaucoma. It requires a lot of DNA and is more complicated and detailed than the analyses we have done so far.

We are still interested in receiving DNA samples from other dogs but unfortunately we are coming to the end of the project in terms of funding so we cannot guarantee that the sample will be analysed.

We will be prioritising dogs that have been diagnosed with severe goniodysgenesis or that have developed glaucoma.

If anyone has a dog with severe goniodysgenesis or glaucoma and would like to contact me directly, my email is  .

Many thanks to everyone who has been part of the project so far. Carys.

Update from the Roslin Institute on the goniscopy and glaucoma research and how you can help.

10th April 2016

Regretfully another dog in the UK has had to have an eye removed and the owners have done

everything they can both for the dog and to assist the research.The Dog has already been eye

tested affected and the litter sister lost an eye at a very young age. DNA was provided at that time

by the owners.

Using the new information on the dog concerned and the DNA already held by the researchers

Roslin have confirmed that it matches the sequence on the models they have been working on.

The next stage is to sequence 10 dogs total genome and also one reference dog – this will include

dogs tested affected, normal, and those that have developed glaucoma and lost eyes.

So how can you help?

We have a few owners that provided DNA (many to Alan Wilton) where the DNA has been used

but Roslin needs some more DNA from these dogs – it takes a lot of DNA to do a full genome and

a lot of the early DNA came from Australia and as you know was not sent over in the best of


Several of the dogs may well no longer be with us – but should they be then can we ask you to get

in touch and Roslin can send you swabs to gain some more DNA – all of these dogs are in the public

domain as being affected and or have lost eyes.

Here is the list:

General of Marann’s Home

Lucky Borders Hazel in Blue

Barlin’s Final Fling

In addition, if any owners and or breeders that have not already supplied DNA of dogs that have

been eye tested affected (anywhere in the world) or have lost eyes can they please get in touch

with us at the PBHF in total confidence and we will arrange for Roslin to contact you and ask for

DNA.  Contact Kathie here :

Lastly, the researchers would like DNA from any dogs that have been eye tested (goniscopy) more

than once with the same result outcome. Several had them done at the 2 clinics we did in the UK

and most provided DNA either by blood or swab. So we just need DNA from any that may have

been tested but not yet given the DNA.  Thank you in advance from at least one breeder who has

offered their bitches DNA who has been tested twice.

The research is really moving on and with just a bit more help we should be able to publish the

next steps.

In the meantime, it is important to keep eye testing and publishing the results and read the

research information around breeding on our website and in the files.

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