Congenital Eye Malformation (Golden Retriever)

$75.00 (RRP)



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.


Ophthalmologic - Associated with the eyes and associated structures


SIX6, chr8

Variant Detected:

c.487C>T p.Gln163*


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):
Genes (Basel). 2019 Jun; 10(6): 454.

Associated Breed(s):

Golden Retriever, Goldendoodle, Groodle,