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Genetics Library / Conditions / Achromatopsia

CONDITION REFERENCE

Achromatopsia

Information from MedlinePlus Genetics about this condition and how it can be inherited.

About this condition

Achromatopsia is a disorder that causes problems with color vision. The retina, which is the light-sensitive tissue at the back of the eye, contains two types of light receptor cells called rods and cones. Rods provide vision in low light (night vision), while cones provide vision in bright light (daytime vision). Cones are also responsible for color vision. 

There are two types of achromatopsia: complete and incomplete. People with complete achromatopsia cannot perceive any color; they see only black, white, and shades of gray. People with incomplete achromatopsia can see some color.

People with achromatopsia may have additional problems with their vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals may also have a small visual blind spot (scotoma), farsightedness (hyperopia), or nearsightedness (myopia).

Achromatopsia is different from the more common forms of color vision deficiency (also called color blindness), in which people can perceive color but have difficulty distinguishing between certain colors, such as red and green. One form of color blindness, called blue cone monochromacy (BCM), is sometimes considered a form of incomplete achromatopsia. 

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-02-12. Source review: 2025-08.

Inheritance

  • Autosomal recessive

A condition can have several forms with different inheritance patterns. Each pattern may apply to a different gene or form of the condition.

Related genes

MedlinePlus lists these genes for this condition. Open a gene page to read any available ClinGen reviews and ClinVar records.

YOUR DNA FILE

What can your DNA file tell you?

Your DNA file only includes the positions your test checked and reported. Consumer DNA kits usually test selected positions. Sequencing files can also leave out positions that were not reported or where the test could not give a result.

A variant missing from your file does not mean you tested negative for it. A ClinVar classification applies to a particular variant and the condition or finding it was reported for. It does not apply to everyone with that gene. An uncertain finding cannot establish a diagnosis.

BioDecode reads supported DNA files on your computer. It cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Sources and dates

The source information on this page last changed on 2026-09-18.

MedlinePlus Source details

Open source record ↗

Source release: Fri, 18 Sep 2026 05:17:13 GMT
Source publication: 2026-02-12
Source review: 2025-08

SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a

About the library sources · Latest validated release · Record bf6c48fe681d