Background

Primary open angle glaucoma (POAG) is a leading cause of blindness in dogs. Elevated intraocular pressure is the most important risk factor. Increased resistance to outflow of aqueous humor through the trabecular meshwork causes elevated intraocular pressure, but the specific mechanisms are unknown. Primary Lens Luxation (PLL) is a well-recognized, painful and blinding inherited eye condition that affects many breeds of dog, particularly terrier and terrier-type breeds. In affected dogs the fibres which support the lens are broken down or disintegrated. As a result, the lens falls into the wrong position within the eye. This results in a loss of vision. POAG and PLL are inherited as autosomal recessive traits. In Chinese Shar-Pei, a mutation in ADAMTS17 was found to be associated with a diagnosis of POAG, PLL or both. However, it is not yet clear whether these cases are classic PLL or represent a chronic disease process with POAG as the only primary disease.

Test specific information

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Age

The disease may show itself on different ages, in which it cannot be estimated when the first symptoms may show themselves. Differences may exist between littermates, and between breeds.

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 10 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: Shar Pei. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

For this DNA test we accept the following materials: Blood Heparin, Blood EDTA, Semen, Swab, Tissue. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.

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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