Achromatopsia 6

MONDO:0012398

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.

Also known as: ACHM6, RCD3A, retinal cone dystrophy 3A, retinal cone dystrophy type 3A

29 clinical trials for this condition and its sub-types.

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