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A member asked:
Does a genetic test exist for the disease achromatopsia, or colorblindess?
A doctor has provided 1 answer
Yes: Mutations in one of these several genes will cause colorblindness. These are autosomal recessive mutations. The genes are: achm2-alpha subunit of the cone photoreceptor cgmp-gated cation channel, on chromosome 2q11; achm3- cngb3 gene, the beta subunit of the cone cyclic nucleotide-gated cation channel, on chromosome 8q21; achm4- gnat2 gene, Alpha subunit of cone transducing, on chromosome 1p13.
Answered 6/21/2015
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