achromatopsia
Sign in to saveAlso known as ACHM, monochromatism, monochromacy, complete color blindness, total color blindness, Rod monochromacy, Rod monochromatism, Pingelapese blindness
Achromatopsia, also known as rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy. Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition. The term is also used to describe cerebral achromatopsia, though monochromacy is usually the only common symptom. The conditions include: monochromatic color blindness, poor visual acuity, and day-blindness. The syndrome is also present in an incomplete form that exhibits milder symptoms, including r
Key facts
- Medical condition.name
- Achromatopsia
- Medical condition.synonym
- Rod Monochromacy
- Medical condition.symptoms
- Monochromacy, Day blindness, Photophobia
- Medical condition.causes
- Congenital malfunction of the Visual phototransduction pathway
- Medical condition.diagnosis
- Electroretinography
via Wikipedia infobox
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Encyclopedic overview
19 sectionsContents
- Signs and symptoms
- Cause
- Pathophysiology
- ACHM2
- ACHM3
- ACHM4
- Management
- Gene therapy
- Eyeborg
- Other accommodations
- Epidemiology
- Blue cone monochromacy
- Cerebral achromatopsia
- Terminology
- See also
- References
- Footnotes
- Sources
- External links
Achromatopsia, also known as rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy. Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition. The term is also used to describe cerebral achromatopsia, though monochromacy is usually the only common symptom. The conditions include: monochromatic color blindness, poor visual acuity, and day-blindness. The syndrome is also present in an incomplete form that exhibits milder symptoms, including residual color vision. Achromatopsia is estimated to affect 1 in 30,000 live births worldwide.
== Signs and symptoms == The five symptoms associated with achromatopsia are: Color blindness – usually monochromacy Reduced visual acuity – uncorrectable with lenses Hemeralopia – with the subject exhibiting photophobia Nystagmus Iris operating abnormalities
Excerpted from Wikipedia’s “achromatopsia” article, available under the CC BY-SA 4.0 licence.