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Achromatopsia (Labrador Type)

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Test Overview:

Avoid breeding affected dogs (homozygous for the CNGA3 mutation) to prevent producing puppies with achromatopsia. Carrier x carrier matings should be avoided, as they have a 25% chance of affected offspring. Instead, carriers should be bred only to clear (non-carrier) dogs to ensure no affected puppies are born. Genetic screening of all breeding dogs in the Labrador breed is advised to identify carriers and guides safe pairings. Breed clubs and veterinary geneticists often provide guidelines and support for managing this condition within the breed.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

CNGA3

Variant Detected:

a missense mutation in exon 7 (c.C1270T/p.R424W)

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Genetics Committee of the American College of Veterinary Opthalmologists : The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf , 2021. Tanaka, N., Dutrow, E.V., Miyadera, K., Delemotte, L., MacDermaid, C.M., Reinstein, S.L., Crumley, W.R., Dixon, C.J., Casal, M.L., Klein, M.L., Aguirre, G.D., Tanaka, J.C., Guziewicz, K.E. : Canine CNGA3 gene mutations provide novel insights into human achromatopsia-associated channelopathies and treatment. PLoS One 10:e0138943, 2015. Pubmed reference: 26407004. DOI: 10.1371/journal.pone.0138943.

Associated Breed(s):

Australian Labradoodle , Cavador, Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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