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Generalised PRA 2 (Golden Retriever Type)

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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.

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:

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):

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,

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