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Goniodysgenesis and Glaucoma Susceptibility

Breeds

Relevance Rating: There is moderate evidence or research available in this breed

General

Disease Name
Goniodysgenesis and Glaucoma Susceptibility
Mutation
c.590G>A
Test Type
Genetic Disease/Disorder
Details
Goniodysgenesis is a condition cause by the abnormal development of the eye which can result in excessive pressure buildup, eventually causing permanent damage to the optic nerve, resulting in 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. (Secondary glaucoma is a term referred to when the disease is triggered by something other than genetics.) Many dogs affected by glaucoma will become blind in the affected eye within the first year. Symptoms of glaucoma include: severe pain, sensitivity to light, winking spasms, sunken eyes, raised third eyebrow, dog winces when you touch the head, watery eyes, pain-related behavioral change (hiding, refusal to eat), red eye, and dilated pupils.
Published
unpublished
Phene Discovery
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. Animal Genetics helped develop an assay based on this discovery to detect the genetic variant associated with Border Collie Glaucoma. A paper will be published outlining all of the work.

Breed Specific Info

Breed-specific 1
Expert/researcher comments: Original publication (Pugh et al., (2019)) demonstrated strong association between severe goniodysgenesis and primary glaucoma in Border Collies. No functional evidence presented. Subsequent puplication (Oliver et al., (2020)) independently validated association between pectinate ligament abnormality and primary closed-angle glaucoma in Border Collies from the United Kingdom. Pugh et al., (2019) Arginine to Glutamine Variant in Olfactomedin Like 3 (OLFML3) Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog Breed. G3 (Bethesda). 2019 Mar 7;9(3):943-954. doi: 10.1534/g3.118.200944. Oliver et al., (2020) A variant in OLFML3 is associated with pectinate ligament abnormality and primary closed-angle glaucoma in Border Collies from the United Kingdom. Vet Ophthalmol, 23, 25-36.
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