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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.
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Associated Breed(s):
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Labels:
Category:
Ophthalmologic - Associated with the eyes and associated structures
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Gene:
Beta subunit of the cGMP phosphodiesterase gene (PDE6B) on chromosome 3
Variant Detected:
Nucleotide Deletion c.2404-2406del p.Asn802del
Mode of Inheritance:
Autosomal Recessive
OMIA Reference:
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