Background

Since the late 1990s, in Australian Border Collies a malformation of the anterior chamber of the eye (goniodysgenesis) in conjunction with a primary glaucoma was observed. Subsequently, the disease was also found in Europe and the USA. There are severe and mild forms of goniodysgenesis. The severe form seems to predispose the onset of glaucoma, but there are also dogs that do not develop glaucoma despite severe goniodysgenesis. Thus, other genetic or environmental factors must influence the development of glaucoma. In Border Collies, a mutation in the olfactomedin-like 3 gene (OLFML3) could be identified, which is most probably responsible for the development of the severe form of goniodysgenesis in homozygous animals. However, some heterozygous carriers of the mutation with different severe malformations of the anterior chamber but never with glaucoma were also found. It is therefore assumed that additional variants of other loci, so-called modifier loci, influence the development of goniodysgenesis.

Test specific information

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Age

Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.

Throughput

The turn-around-time of a test depends to a large extent on the logistics of sample transportation to the laboratory. After receiving the sample at the test location, you can normally expect the result within 15 working days. A longer delivery time applies to tests carried out by a Partner Lab.

Location of disease or trait

This disease mainly affects vision, and may result in blindness.

Breed dependence

This DNA test is available for the following breeds: Border Collie.

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Tissue, Swab.

Result

An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.

An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.

An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.

Inheritance

This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous).

Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.

Severity of Disease

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