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K418

Primary Glaucoma (PG) is an eye disorder that builds up pressure in the eye and affects the nerves of the retina, potentially damaging vision.

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Specifications

Breeds

, , ,

Gene

Chromosome

B3

Mutation

c.1449_1452dup

Organ

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

General information

Primary Glaucoma (PG) is an eye disorder that builds up pressure in the eye and affects the nerves of the retina, potentially damaging vision. This variant of the disorder, known as Primary Congenital Glaucoma or Primary Glaucoma 3, is found in the Siamese cat. It is caused by a recessive mutation to the gene LTBP2.

Clinical features

Affected cats have abnormally enlarged eyes. Veterinary ophthalmological examination of affected cats can confirm the diagnosis. Approximately 8% of affected eyes are reported to develop further signs of glaucoma and lens instability, such as lens luxation, within the first two years of life.

Additional information

References

Pubmed ID: 27149523

Year published: 2016

Omia ID: 2017

Omia variant ID:

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.