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Congenital Eye Malformation (Golden Retriever)

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Description:

This is a genetic disorder with incomplete penetrance leading to highly variable congenital eye malformations seen in young puppies.  464 unrelated Golden Retrivers were screened (genotyped) of which 3 cases were heterozygous and diagnosed as showing the phenotype.  
These include unilateral or bilateral retina dysplasia and/or optic nerve hypoplasia.  The disease is associated with abnormal SIX6 protein, which is a homeobox transcription factor with a known role in eye development. In humans and other species, SIX6 loss of function variants were reported to cause congenital eye malformations. This strongly suggests that the c.487C>T variant detected contributed to the observed eye malformations.

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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