Generalised PRA 2 (Golden Retriever Type) Overview
Generalised PRA 2 (Golden Retriever Type)
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Category: Ophthalmologic - Associated with the eyes and associated structures
Gene: Tetratricopeptide repeat domain 8 (TTC8) on chromosome 8
Variant Detected: c.669delA p.Lys223Arg-frameshiftX15
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
Test Overview: Progressive retinal atrophy, golden retriever 2 (GR-PRA2) is a late-onset inherited eye disease affecting dogs. Affected dogs begin showing clinical symptoms related to retinal degeneration between 4 to 5 years of age on average, though age of onset can vary. Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the tapetum that can be observed on a veterinary eye exam. Progression of the disease leads to thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Affected dogs initially have vision loss in dim light (night blindness) and loss of peripheral vision, progressing to complete blindness in most affected dogs.
Research Citation(s): Downs LM et al, Canine Genetics and Epi, A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever, (2014) 1:4 1-12.
Associated Breed(s): Golden Retriever, Goldendoodle, Groodle, Mixed Breed,