Goniodysgenesis / glaucoma (OLFML3-related) - Border Collie

What does this test examine?

This genetic test analyses the OLFML3 c.590G>A variant in the Border Collie. The condition is known as goniodysgenesis, goniodysplasia, pectinate ligament abnormality (PLA) and is often discussed in breeding programmes together with primary closed-angle glaucoma (PCAG).

What does it mean for the dog?

Goniodysgenesis is a developmental abnormality of the drainage angle of the eye. If this angle is narrow or malformed, fluid drainage may be reduced and intraocular pressure can rise. This increases the risk of glaucoma, pain and vision loss. The tested OLFML3 variant is best handled as a risk marker: dogs with two copies have an increased genetic risk, while the onset and severity of glaucoma are still influenced by additional factors.

Practical value of this test

• Breeders can track genetic risk more clearly within Border Collie lines.
• The result helps avoid matings that may produce puppies with two copies of the risk variant.
• Dogs with an increased genetic risk can be prioritised for eye screening and follow-up.

The variant is interpreted in an autosomal recessive way for the risk genotype. One copy indicates carrier status for the marker; two copies increase the chance of goniodysgenesis and glaucoma but do not fully predict the clinical course.