Progressive Retinal Atrophy - crd1PRA - QUICK TURNAROUND TIME Overview
Progressive Retinal Atrophy - crd1PRA - QUICK TURNAROUND TIME
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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: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.
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 Pit Bull Terrier, American Staffordshire Terrier,