Progressive Retinal Atrophy - crd1PRA Overview
Progressive Retinal Atrophy - crd1PRA
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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 Staffordshire Terrier, American Pit Bull Terrier, American Bully ,