Congenital Eye Malformation (Golden Retriever Type)
Affected Genes: SIX6
General Information: Congenital Eye Malformation (Golden Retriever Type) is a hereditary eye disorder that can appear in dogs shortly after birth. This condition can lead to various structural abnormalities in the eyes, such as microphthalmia (small eyes), cataracts, and colobomas (gaps in the structure of the eye). Affected dogs may exhibit symptoms such as impaired vision or blindness, abnormal eye appearance, and sensitivity to light. The severity of the condition can vary, with some dogs experiencing significant vision loss while others may have milder symptoms. Early diagnosis and management, including regular veterinary eye examinations and supportive care, can help improve the quality of life for affected dogs.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Possibly Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing of the SIX6 gene can identify whether a dog is a carrier of Congenital Eye Malformation (Golden Retriever Type). This disease is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the condition to develop. Carrier dogs, possessing only one copy of the mutation, typically do not exhibit symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the condition and a 50% chance of being a carrier. To prevent affected offspring and eliminate the mutation from breeding lines, it is advised not to breed two carriers. Dogs that are not carriers pose no increased risk of having pups with the condition.
Variant(canFam6):
chr8:35320239: C>T
Breed: Golden Retriever
General Information: Congenital Eye Malformation (Golden Retriever Type) is a hereditary eye disorder that can appear in dogs shortly after birth. This condition can lead to various structural abnormalities in the eyes, such as microphthalmia (small eyes), cataracts, and colobomas (gaps in the structure of the eye). Affected dogs may exhibit symptoms such as impaired vision or blindness, abnormal eye appearance, and sensitivity to light. The severity of the condition can vary, with some dogs experiencing significant vision loss while others may have milder symptoms. Early diagnosis and management, including regular veterinary eye examinations and supportive care, can help improve the quality of life for affected dogs.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Possibly Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing of the HSF4 gene can identify whether a dog is a carrier of Congenital Eye Malformation (Golden Retriever Type). This disease is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the condition to develop. Carrier dogs, possessing only one copy of the mutation, typically do not exhibit symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the condition and a 50% chance of being a carrier. To prevent affected offspring and eliminate the mutation from breeding lines, it is advised not to breed two carriers. Dogs that are not carriers pose no increased risk of having pups with the condition.
References:
Hug P, Anderegg L, Dürig N, Lepori V, Jagannathan V, Spiess B, Richter M, and Leeb T. A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations. Genes (Basel) 2019 10(6):454.