Progressive Retinal Atrophy - crd1PRA - QUICK TURNAROUND TIME

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Ophthalmologic - Associated with the eyes and associated structures


Beta subunit of the cGMP phosphodiesterase gene (PDE6B) on chromosome 3

Variant Detected:

Nucleotide Deletion c.2404-2406del p.Asn802del


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.