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Achromatopsia 6

rare

Any achromatopsia caused by a mutation in the PDE6H gene, characterized by incomplete loss of color vision, with a red-green color vision defect and normal or near-normal blue-yellow vision. Reduced visual acuity is also present, but not progressive.

Causal genes
PDE6H
Also known as
ACHM6 · RCD3A · retinal cone dystrophy 3A · retinal cone dystrophy type 3A

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