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Primary Congenital Glaucoma (Feline)

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Test Overview:

Genetic testing of breeding cats for the LTBP2 mutation is essential, especially in Siamese and related cats. Cats with two copies of the mutation (affected) should not be bred to prevent producing affected kittens. Cats with one copy of the mutation (carriers) should be bred only to cats clear of the mutation to avoid affected offspring. Avoid breeding two carriers together, which risks 25% affected kittens per litter. Sharing genetic test results transparently enhances responsible breeding decisions and decreases disease prevalence.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

LTBP2

Variant Detected:

c.1449_1452dup

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a cat is a carrier for Primary Congenital Glaucoma.

Research Citation(s):

Kuehn, M.H., Lipsett, K.A., Menotti-Raymond, M., Whitmore, S.S., Scheetz, T.E., David, V.A., O'Brien, S.J., Zhao, Z., Jens, J.K., Snella, E.M., Ellinwood, N.M., McLellan, G.J. : A mutation in LTBP2 causes congenital glaucoma in domestic cats (Felis catus). PLoS One 11:e0154412, 2016. Pubmed reference: 27149523.

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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