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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,