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achromatopsia

MONDO:0018852

Also 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

+103 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.