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Achromatopsia 2

Breeds

Relevance Rating: There is some evidence or research available for these breeds

General

Disease Name
Achromatopsia 2
Mutation
c.1270C>T
Mutation 2
c.1931_1933delTGG
Test Type
Genetic Disease/Disorder
Details
Day Blindness also known as Achromatopsia , or color blindness, is characterized by cone photoreceptor dysfunction, causing severely reduced or complete vision loss during daylight hours. Dogs may also show signs of avoiding bright light or distress in bright light (photophobia). The disease is present at birth (i.e. it is congenital) and clinical signs show when dogs are approximately 8-10 weeks of age.
Details 2
Day Blindness in the Labrador Retriever also known as Achromatopsia , or color blindness, is characterized by cone photoreceptor dysfunction, severely reduced or complete vision loss during daylight hours, and photophobia. The disease is present at birth (i.e. it is congenital) and is manifested clinically when dogs are approximately 8-10 weeks of age.
Published
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. Edit History
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