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Progressive Retinal Atrophy - crd1PRA
$50.00 (RRP)
$50.00 (MEMBER PRICE)
Description:
This is a hereditary progressive retinal degeneration disease characterized by the loss of photosensitive cells in the retina in both eyes simultaneously. Age of onset is young puppies and a veterinary eye examinatiin will show retinal changes as early as 11-weeks of age. Retinal degeneration becoming significant around 20 months old progressing to blindness in the early adulthood.
Category:
Ophthalmologic - Associated with the eyes and associated structures
Gene:
Beta subunit of the cGMP phosphodiesterase gene (PDE6B) on chromosome 3
Variant Detected:
Nucleotide Deletion c.2404-2406del p.Asn802del
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
Research Citation(s):
Goldstein O, et al. IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. (2013) Invest Ophthalmol Vis Sci 54(10);7005-7019.
Associated Breed(s):
American Bully , American Pit Bull Terrier, American Staffordshire Terrier,
