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Progressive Retinal Atrophy - crd2PRA

Progressive Retinal Atrophy - crd2PRA

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Test Overview:

Progressive retinal Atrophy, cone-Rod dystrophy 2 is an early-onset inherited eye disease affecting dogs. The disease affects the Photoreceptor Cells of the Retina and results in the progressive loss of vision. Affected dogs typically have abnormal thinning and degeneration of the retina by 12 weeks of age. Evidence of retinal thinning can be identified on a veterinary eye exam by 3 to 6 months of age. Vision is severely impaired by one year of age and by 20 months of age affected dogs have an advanced stage of retinal degeneration.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

IQCB1

Variant Detected:

c.952-953insC chr33:25078909-25078910 (canFam3): 1 bp insertion (ins C)

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 of the IQCB1 gene will reliably determine if a dog is a genetic carrier of progressive retinal Atrophy, cone-Rod dystrophy 2.

Research Citation(s):

Goldstein O, Mezey JG, Schweitzer PA, Boyko AR, Gao C, Bustamante CD, Jordan JA, Aguirre GD, Acland GM. IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Invest Ophthalmol Vis Sci. 2013 Oct 25;54(10):7005-19. [PubMed: 24045995] Kijas JW, Zangerl B, Miller B, Nelson J, Kirkness EF, Aguirre GD, Acland GM. Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis. 2004 Mar 29;10:223-32. [PubMed: 15064680]

Associated Breed(s):

American Bulldog , American Pit Bull Terrier, American Staffordshire Terrier, Australian Bulldog, Southern Cross Bulldog,

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