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Cone Degeneration (Labrador Retriever Type)

Cone Degeneration (Labrador Retriever Type) is an inherited eye disease in dogs that causes day blindness and light sensitivity due to the degeneration of cone photoreceptors.

Affected Genes: CNGA3

Inheritance: Autosomal Recessive

Variant(canFam6):
chr10:44156702-44156704: 3 bp deletion TGG

Breed: Australian Labradoodle
Labradoodle
Labrador Retriever

General Information: Cone Degeneration (Labrador Retriever Type) is a genetic eye disorder affecting dogs, characterized by the degeneration of cone photoreceptors responsible for vision in bright light. Symptoms typically emerge between 8 and 12 weeks of age, resulting in day blindness (blindness in bright light) and photophobia (sensitivity to light). Despite this, affected dogs retain normal vision in low light, as their rod photoreceptors, responsible for night vision, remain unaffected. The inner eye structures of these dogs appear normal during an eye examination. This condition significantly impacts the dogs’ ability to see in bright environments while allowing them to function normally in low light conditions throughout their lives.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the CNGA3 gene is essential for identifying carriers and dogs affected by Cone Degeneration (Labrador Retriever Type). This disease is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the condition. Carrier dogs, possessing one normal and one mutated gene, do not show symptoms but can pass the mutated gene to their offspring. Breeding two carriers poses a risk of producing affected puppies, with each pup having a 25% chance of inheriting the disease and a 50% chance of being a carrier. Genetic testing for the CNGA3 mutation allows breeders to make informed decisions, avoiding the pairing of two carriers to prevent the production of affected puppies. This proactive approach is vital for eliminating the mutation from breeding lines, ensuring the health and well-being of future generations, and maintaining clear and bright vision in Labrador Retrievers and other susceptible breeds.

References:
Tanaka N, Dutrow EV, Miyadera K, Delemotte L, MacDermaid CM, Reinstein SL, Crumley WR, Dixon CJ, Casal ML, Klein ML, Aguirre GD, Tanaka JC, Guziewicz KE. Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. PLoS One 2015 10(9):e0138943.