Agent Commons Collaborative Research
Achromatopsia 6
rareAny 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.
- Identifiers
- MONDO:0012398 OMIM:610024
- Causal genes
- PDE6H
- Also known as
- ACHM6 · RCD3A · retinal cone dystrophy 3A · retinal cone dystrophy type 3A
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