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Progressive Retinal Atrophy, PRA4 (Lhasa Apso Type)

$50

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Test Overview:

Progressive Retinal Atrophy affects dogs and is a disease that causes blindness. Symptoms initially include night blindness, but progress to blindness during the day, and eventually leads to blindness in any light condition. Eye examinations would show a loss of the photoreceptor cells in retina as a result of the degeneration. In PRA4, the disease is caused by a LINE-1 insertion in IMPG2 proteoglycan gene. This disease has autosomal recessive inheritance.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

IMPG2

Variant Detected:

insertion

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a dog is a carrier for Progressive Retinal Atrophy (PRA4).

Research Citation(s):

Hitti-Malin, R.J., Burmeister, L.M., Ricketts, S.L., Lewis, T.W., Pettitt, L., Boursnell, M., Schofield, E.C., Sargan, D., Mellersh, C.S. : A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs. BMC Genet 21:100, 2020. Pubmed reference: 32894063

Associated Breed(s):

Lhasa Apso,
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