Description: Goniodysgenesis (GG) is caused by abnormal development of the anterior chamber of the eye. Due to abnormal development of intraocular fluid egress channels inside the eye the iridocorneal angle (ICA), through which the excessive chamber fluid is filtered and drained. Within dog, population goniodysgenesis is considered as a congenital disease, which can often cause glaucoma or blindness. For first was GG detected in Border Collies in the late 90s in Australia, after that it spread to Europe and USA.
Goniodysgenesis has two forms: severe and mild. The severe form of this disease is caused by the mutation in the gene encoding for olfactomedin-like 3 (OLFML3). This encoded protein facilitates protein-protein interactions, cell adhesion, and intracellular interactions and has a general supporting function. It seems that the mild form of the disease is not associated with this mutation and can be caused by other genetic predispositions. GG is caused by a missense mutation c.590G>A (p.Arg197Gln), when arginine changes to glutamine which causes changes of the protein properties and its effects.
Inheritance: autosomal recessive
Mutation: missense mutation c.590G>A (p.Arg197Gln) in OLFML3 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Border Collie, Flat-Coated Retriever, Springer Spaniel, Cocker Spaniel, and Basset hound, Golden Retriever, Leonberger
Notes: GG is considered as an autosomal recessive disease, but the phenotypes of the affected and carrier individuals are variable. Some heterozygotes can have the same symptoms as homozygotes. On the other hand, other heterozygotes remain clinically unaffected. The exact mode of inheritance has not been elucidated yet.