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Achromatopsia (Cone Degeneration, Hemeralopia), AMAL

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these 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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