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Goniodysgenesis and Glaucoma (Border Collie)

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Test Overview:

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. Goniodysgenesis, also known as mesodermal dysgenesis, is an abnormality of the anterior chamber of the eye, and it has been associated with glaucoma and blindness. Goniodysgenesis and early-onset glaucoma has been documented for the first time in Australia in the late 1990s and afterwards have been found also in Europe and the USA. It is particularly commonly diagnosed in some Border collie lineages; in conducted study, 10.8% of Border collies were reported to have moderate or severe pectinate ligament dysplasia, alteration in eye structure responsible for proper humour drainage. 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.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

OLFML3

Variant Detected:

c.590G>A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Gelatt KN, (2004.): Prevalence of the breed-related glaucomas in pure-bred dogs in North America. Vet Ophthalmol. 2004;7:97–111. Carys A Pugh, Lindsay L Farrell, Ailsa J Carlisle, Stephen J Bush, Violeta Trejo-Reveles, Oswald Matika, Arne de Kloet, Caitlin Walsh, Stephen C Bishop, James GD Prendergast, Jeffrey J Schoenebeck, Joe Rainger, Kim M Summers: Arginine to glutamine mutation in olfactomedin-like 3 (OLFML3) is a candidate for severe goniodysgenesis and glaucoma in the Border Collie dog breed. doi: https://doi.org/10.1101/321406

Associated Breed(s):

Border Collie, Koolie , Mixed Breed,

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