Disease overview

Goniodysgenesis and early-onset glaucoma is thought to have first emerged in Border Collies in Australia. Goniodysgenesis is a developmental abnormality of the anterior chamber of the eye, which can lead to an increased ocular pressure buildup and pain that is characteristic of glaucoma (but not always). A variant in the OLFML3 gene appears to be associated with the occurrence of goniodysgenesis and early-onset glaucoma in Border Collies.

Gene name

OLFML3

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs of goniodysgenesis and early-onset glaucoma may appear suddenly and dramatically. The affected eye may have dilated pupils, and enlarged vessels. An affected dog may present with aversion to bright light, head shaking, or pawing at the eyes.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. A veterinary ophthalmic exam can be performed to measure the intraocular pressure of the eye. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Pugh CA, Farrell LL, Carlisle AJ, Bush SJ, Ewing A, Trejo-Reveles V, Matika O, de Kloet A, Walsh C, Bishop SC, Prendergast JGD, Rainger J, Schoenebeck JJ, Summers KM. 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. PMID: 30696701; PMCID: PMC6404605.

Oliver JAC, Wright H, Massidda PA, Burmeister LM, Mellersh CS. A variant in OLFML3 is associated with pectinate ligament abnormality and primary closed-angle glaucoma in Border Collies from the United Kingdom. Vet Ophthalmol. 2020 Jan;23(1):25-36. doi: 10.1111/vop.12680. Epub 2019 May 29. PMID: 31141290.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.