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Congenital Eye Malformation (Golden Retriever)

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Test Overview:

Genetic testing for the SIX6 mutation is essential for all breeding animals. Avoid breeding two carriers or dogs with one copy of the mutation if possible, due to autosomal dominant inheritance. Dogs with the mutation should be excluded from breeding to reduce incidence. Use genetic screening results to inform breeding decisions and maintain genetic diversity. Monitor and follow-up on progeny to identify phenotypic expression when penetrance is incomplete.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

SIX6, chr8

Variant Detected:

c.487C>T p.Gln163*

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 Dominant with Incomplete Penetrance

Research Citation(s):

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6628151/
Genes (Basel). 2019 Jun; 10(6): 454.

Associated Breed(s):

Golden Retriever, Goldendoodle, Groodle,

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