Disease overview

Congenital Eye Malformation in Golden Retrievers is due to a mutation in a gene that leads to a variety of eye abnormalities, such as lack of optic nerve or retinal development. This disease can range in presentation.

Gene name

SIX6

Inheritance

Autosomal dominant with incomplete penetrance

Signs and symptoms

Affected dogs may show signs of visual impairment and behavior changes. Opacity of the eye, and rhythmic eye flicking known as nystagmus, may be present. Dogs may present with ataxia, which is a neurological sign of defective motor coordination that can affect gait, balance, speech, and gaze.

How is it diagnosed

Thorough examination of the eyes and clinical signs. A veterinary ophthalmologic exam can determine if there are changes in the eye that have or will lead to vision loss. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Hug P, Anderegg L, Dürig N, Lepori V, Jagannathan V, Spiess B, Richter M, Leeb T. A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations. Genes (Basel). 2019 Jun 14;10(6):454. doi: 10.3390/genes10060454. PMID: 31207931; PMCID: PMC6628151.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.