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Achromatopsia (Cone Degeneration, Hemeralopia), AMAL

Breeds

General

Disease Name
Achromatopsia (Cone Degeneration, Hemeralopia), AMAL
Mutation
complete deletion
Test Type
Genetic Disease/Disorder
Details
Achromatopsia (AMAL form) can cause day-blindness, total colorblindness, and limited vision particularly with regards to shapes and details of objects. For some breeds with this form of achromatopsia, there may be a late-onset. Please note that there are several forms of this disease that have tests available.
Details 2
Achromatopsia is an autosomal recessive disease characterized by the loss of cone photoreceptor function that results in day-blindness, total colorblindness, and decreased central visual acuity. (Yeh et al., 2013)
Published
Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., Ostrander, E.A.: Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3 Human Molecular Genetics 11:1823-33, 2002. Pubmed reference: 12140185.
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