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Condition report · Ophthalmological

Color Blindness

Colour vision deficiency, often called colour blindness, means some colours, usually reds and greens, are hard to tell apart. Red-green types are common in men; blue-yellow types and blue cone monochromacy are much rarer.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

The 4 conditions we analyse

Red-Green Colour Vision Deficiency

X-linked recessive · About 8% of men of European ancestry.

An X-linked difference in colour vision caused by changes in the OPN1LW and OPN1MW genes for the red- and green-sensitive cone pigments.

What a diagnosis changes

Knowing about it can help with education and career choices, as some jobs require normal colour vision.

Genes analysed

Also known as

CBD; colorblindness, deutan; colorblindness, partial, DEUTAN series; Deutan defect; deuteranopia; partial achromatopsia, deutan type

MONDO:0010564OMIM 303800Orphanet 319698MedGen 102324

Red Colour Vision Deficiency (Protan)

X-linked recessive

A form of red-green colour vision deficiency affecting the red-sensitive cone pigment (OPN1LW).

What a diagnosis changes

Knowing about it can help with education and career choices.

Genes analysed

Also known as

CBP; colorblindness, partial, protan series; colorblindness, protan; partial achromatopsia, protan type; protan defect; protanopia

MONDO:0010565OMIM 303900Orphanet 319691MedGen 56350

Blue Colour Vision Deficiency (Tritan)

Autosomal dominant

A rare dominant difference in colour vision caused by changes in OPN1SW, the gene for the blue-sensitive cone pigment.

Genes analysed

Also known as

congenital tritanopia; tritan color blindness; tritan colour blindness; tritan defect; tritanopia

MONDO:0008610OMIM 190900Orphanet 88629MedGen 57827

Blue Cone Monochromacy

X-linked recessive

A rare X-linked condition in which both red and green cones do not work, causing reduced vision, nystagmus and very poor colour vision from infancy.

What a diagnosis changes

Low-vision support and tinted lenses can help, and female relatives can be offered carrier testing.

Genes analysed

Also known as

achromatopsia incomplete X-linked; atypical X-linked achromatopsia; BCM; blue cone monochromacy, X-linked recessive; blue cone monochromatism; CBBM; color blindness blue mono cone monochromatic type; color blindness, blue monocone monochromatic type; colour blindness blue mono cone monochromatic type; colour blindness, blue monocone monochromatic type; incomplete achromatopsia X-linked; S cone monochromacy; S cone monochromatism; X-chromosome-linked achromatopsia; X-linked achromatopsia incomplete; X-linked incomplete achromatopsia

MONDO:0010563OMIM 303700Orphanet 16MedGen 87386

Limitations

  • The OPN1LW and OPN1MW genes sit side by side in a near-identical repeated array, and most red-green colour vision deficiency is caused by hybrid genes or changes in the number of copies. Standard whole-genome sequencing cannot reliably analyse this region, so most red-green colour vision deficiency will not be detected, and a negative result does not rule it out.

Other ophthalmological conditions

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