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Progressive Retinal Atrophy - crd1PRA

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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,

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