Achromatopsia (ACHM)

Achromatopsia(来自ICD-11)

别称:

Total Color Blindness

Rod Monochromatism

Rod Monochromacy

Achm

Complete or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 2

Achromatopsia 3

Achromatopsia 1

Monochromatism

Achromatism

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Achromatopsia, also known as total color blindness, is related to achromatopsia 2 and achromatopsia 3, and has symptoms including photophobia An important gene associated with Achromatopsia is PDE6C (Phosphodiesterase 6C), and among its related pathways/superpathways are Olfactory Signaling Pathway and CREB Pathway. The drugs Phenylbutyric acid and Glycerin have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are photophobia and color vision defect

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