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Achromatopsia (Labrador Type)

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Test Overview:

Also called Cone degeneration this is an inherited disorder affecting several breeds. The disorder has been identified for the first time in the 1960’s in a strain of inbred Alaskan malamute dogs. Phenotypically, as well as genetically, characteristics of cone degeneration are similar to the achromatopsia, an inherited disease in human beings. First symptoms of cone degeneration usually occur after the retinal development is normally completed, which is between 8 and 12 weeks of age in the affected dog. These symptoms are recognizable only in the day light, and they are day blindness and photophobia. In dim light, the symptoms are not obvious and vision in dim light remains normal. After birth, cones develop normally, but with time they lose their function and their inner and outer segments start to degenerate. This events are followed with gradual loss of cones throughout the animal’s lifetime.

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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