achromatopsia
MONDO:0018852Also known as: ACHM, Pingelapese blindness, Rod monochromacy, Rod monochromatism, achromatopsia
- MONDO:
- MONDO:0018852
- Orphanet:
- 49382 ↗
Rare disease113 associated genes
Description
Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
Associated genes
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