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Progressive Retinal Atrophy PRA1 (Papillon Type)

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Test Overview:

Progressive retinal atrophy, PRA1 (papillon type) occurs as a result of degeneration of the Rod type Photoreceptor Cells of the Retina, which are important for vision in low light. Affected dogs typically present between 4 to 6 years of age with poor vision in dim light. On a veterinary eye exam affected dogs have changes in reflectivity and appearance of a structure behind the retina called the Tapetum as well as thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Progressive retinal atrophy, PRA1 (papillon type) is slowly progressive and some affected dogs maintain vision in daylight for many years, sometimes for the remainder of their life.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Cyclic nucleotide gated channel beta 1 (CNGB1) on Chromosome 2

Variant Detected:

Nucleotide Insertion and Deletion c.2387delA and 2389_2390insAGCTAC p.Tyr889Serfs*5

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 with Incomplete Penetrance

Research Citation(s):

Winkler PA, et al. A large animal model for CNGB1 autosomal recessive retinitis pigmentosa. (2013) PLoS One 8(8);e72229.

Associated Breed(s):

Mixed Breed, Papillon,

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