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X-Linked PRA2 (Miniature Schnauzer Type)

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Description:

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Test Overview:

X-linked Progressive Retinal Atrophy (XLPRA) is a hereditary eye disease that affects multiple dog breeds, including the Miniature Schnauzer. It leads to the degeneration of the retina, eventually causing blindness. The causative mutation for XLPRA in Miniature Schnauzers is not the same as in other breeds. The mutation is found on the X chromosome, which means it's X-linked. Female dogs with one copy of the mutation are carriers and typically don't show symptoms, whereas male dogs with the mutation are affected and will typically develop the disease.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

RPGR

Variant Detected:

Deletion

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 X-Linked

Research Citation(s):

Zeiss, C., J., (2000.): Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3). Hum. Mol. Genetic. 9(4): 531-537. Beltran, WA., (2009): Age-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutations. Invest Ophthalmol Vis Sci. 50(8): 3985-95. Zhang, Q., Acland, G.M., Wu, W.X., Johnson, J.L., Pearce-Kelling, S., Tulloch, B., Vervoort, R., Wright, A.F., and Aguirre, G.D. (2002). Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum. Mol. Genet. 11, 993–1003.

Associated Breed(s):

Miniature Schnauzer, Mixed Breed,

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