Color Blindness

Aka: Color Blindness, Color Blind, Color Vision Deficiency, Blue-Yellow Color Blindness, Blue-Yellow Dyschromatopsia, Tritanomaly, Tritanopia, Tritan defect, Red-Green Color Blindness, Red-Green Dyschromatopsia, Deuteranomaly, Deuteranopia, Deutan defect, Red Color Blindness, Protanopia, Protanomaly, Protan Defect, Blue Cone Monochromacy, Achromatopsia, Monochromacy

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II. Pathophysiology

  1. Each of three cone types contains a specific opsin photopigment, and each is encoded by a specific gene
    1. L-Cones (long wave length cones, yellow-orange, OPN1LW gene)
    2. M-Cones (middle wave length cones, yellow-green, OPN1MW gene)
    3. S-Cones (short wave length cones, blue-violet, OPN1SW gene)
  2. Genetic Defects
    1. Red Green Color Blindness
      1. Genetic defect of OPN1LW or OPN1MW
      2. Abnormal opsin pigments or absent L-Cones or M-Cones
    2. Blue-Yellow Color Blindness
      1. Genetic defect of OPN1SW
      2. Defective S-Cones or premature destruction of S-Cones
    3. Complete Color Blindness (Blue Cone Monochromacy)
      1. Genetic defect in both OPN1LW and OPN1MW
      2. Defective L-Cones and M-Cones, leaving only functional S-Cones
  3. Acquired Defects
    1. Glaucoma
    2. Retinitis Pigmentosa
    3. Vitamin A Deficiency
    4. Alcoholism
    5. Toluene Poisoning
    6. Medications (e.g. Ethambutol, Phenytoin, Phosphodiesterase Inhibitor)

III. Types

  1. Red-Green Color Blindness
    1. Most common Color Blindness types
    2. Far more common in males (X-Linked)
      1. Males (1 in 12 of northern european descent)
      2. Females (1 in 200 of northern european descent)
    3. Difficulty distinguishing between red and green
    4. M-Cone Disorders (related to green Perception)
      1. Deuteranomaly (most common, dysfunctional M-Cones)
        1. Green appears similar to red (mild dysfunction)
      2. Deuteranopia (loss of M-Cones)
        1. Unable to differentiate green and blue (severe dysfunction)
        2. Results in dichromic Vision (red-blue Vision only)
    5. L-Cone Disorders (related to red Perception)
      1. Protanomaly (dysfunctional L-Cones)
        1. Red appears similar to green, and more dull (mild dysfunction)
      2. Protanopia (loss of L-Cones)
        1. Unable to differentiate green and blue (severe dysfunction)
        2. Results in dichromic Vision (green-blue Vision only)
  2. Blue-Yellow Color Blindness (Tritan defects)
    1. Less common Color Blindness types (<1 in 10,000 persons worldwide)
    2. Difficulty distinguishing between blue and green as well as blue and black
    3. S-Cone Disorders (related to blue Perception)
      1. Tritanomaly (dysfunctional S-Cones)
        1. Difficulty distinguishing between blue and green
        2. Difficulty distinguishing between yellow and red
      2. Tritanopia (loss of S-Cones)
        1. Difficulty distinguishing between blue and green
        2. Difficulty distinguishing between purple and red
        3. Difficulty distinguishing between yellow and pink
        4. Colors appear dull
  3. Complete Color Blindness (Blue Cone Monochromacy, Achromatopsia)
    1. Rare (<1 in 100,000 persons worldwide)
    2. Autosomal Recessive genetic disorder
    3. Results in severe reduction in color Vision and poor Visual Acuity
    4. May also be associated with photophobia, Nystagmus and Myopia

IV. Diagnosis

  1. Color Vision Test (e.g. Ishihara Color Test)

V. Management

  1. Treat underlying causes in acquired Color Blindness
  2. Eyeglass or Contact Lens colored filters may enhance color contrast and differentiation

VI. Resources

  1. Color Blindness (NIH, for patients)
    1. https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/color-blindness/types-color-blindness
  2. Color Vision Deficiency (Medline Plus)
    1. https://medlineplus.gov/genetics/condition/color-vision-deficiency

VII. References

  1. Naifeh (2021) Color Vision, Stat Pearls, accessed 12/13/2021
    1. https://www.ncbi.nlm.nih.gov/books/NBK470227/

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Related Studies

Ontology: Achromatopsia (C0152200)

Definition (NCI) An autosomal recessive genetic disorder affecting the cone cells of the eye. It may be complete, in which the individual can only perceive black, white, or shades or gray, or incomplete, in which the individual has a residual amount of color vision.
Definition (MSH) Severely deficient color perception, typically with monochromacy and reduced visual acuity. The atypical form can include normal visual acuity with pseudomonochromacy.
Concepts Disease or Syndrome (T047)
MSH D003117
ICD9 368.54
ICD10 H53.51
SnomedCT 56852002
Dutch achromatopsie, kleurenblindheid totaal, Achromatopsie
French Cécité totale des couleurs, Cécité totale aux couleurs, Achromatopsie
German Farbenblindheit, vollstaendig, Achromatopsie
Italian Cecità totale ai colori, Acromatopsia
Portuguese Cegueira total para as cores, Acromatopsia
Spanish Ceguera total para los colores, Acromatopsia, acromatismo, acromatopsia (trastorno), acromatopsia, ceguera completa a los colores, monocromatismo
English Achromatopsia, achromatopsia, achromatopsia (diagnosis), achromatopsia (physical finding), Blindness color total, Blindness colour total, achromatism, Monochromatism, Achromatism, Complete color blindness, Total color blindness, Total colour blindness, Complete colour blindness, Achromatopsia (disorder), monochromatism
Czech Úplná barvoslepost, Achromatopsie, achromatopsie
Hungarian Amaurosis teljes szín, Teljes színvakság, Achromatopsia
Norwegian Akromatopsi
Japanese 1ｼｷｶｸ, １色覚
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Color Blindness, Red (C0155015)

Concepts Disease or Syndrome (T047)
MSH D003117
ICD9 368.51
ICD10 H53.54
SnomedCT 51445007
Dutch protan-afwijking
French Protanopie, Monochromatopsie du rouge, Cécité au rouge, Protanomalie
German Protan-Stoerung
Portuguese Protanomalia
Spanish Defecto protánico, protanomalía, protanopía (trastorno), protanopía
English Color Blindness, Red, protan defect (diagnosis), protan defect, Red Color Blindness, Protan Defect, red color defect (physical finding), red color defect, protanopia, PROTANOMALY, Protan defect, Protanomaly, Protanopia, Protan defect (disorder), protanomaly
Czech Protanopie
Hungarian Protan defectus
Norwegian Protanopi, Protanomali, Rødfargeblindhet, Fargeblindhet, rød, Protan fargesvakhet, Rødblindhet, Rødfargesvakhet
Italian Difetto protan, Daltonismo rosso, Cecità al rosso
Japanese 1ｶﾞﾀｼｷｶｸ, １型色覚
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Color Blindness, Red-Green (C0155016)

Concepts Disease or Syndrome (T047)
MSH D003117
ICD9 368.52
ICD10 H53.53
SnomedCT 77479002, 246674000
Dutch deutan-afwijking, rood-groen kleurenblindheid, deuteranopsie
French Achromatopsie rouge-verte, Deutanopie, Daltonisme rouge-vert, Deuteranopie, Cécité au rouge-vert
German Rot-Gruen-Farbenblindheit, Deutan-Stoerung, Deuteranopie
Italian Cecità per i colori rosso-verde, Difetto deutan, Cecità al rosso-verde, Daltonismo rosso-verde, Deuteranopia
Portuguese Cegueira para cores ao vermelho-verde, Defeito deuteranópico, Deuteranopia
Spanish Ceguera a los colores verde y rojo, Defecto deutánico, Deuteranopia, deuteranomalía (trastorno), deuteranomalía, deuteranopía, discriminación rojo - verde, reducida (hallazgo), discriminación rojo - verde, reducida
English Color Blindness, Red-Green, deutan defect (diagnosis), deutan defect, Reduced red-green discriminatn, Color Blindness, Red Green, Red-Green Color Blindness, Defect, Deutan, Deutan Defect, red-green color blindness, red-green colour blindness, blindness color green red, red green color blindness, DEUTERANOMALY, Deutan defect, Deuteranomaly, Deuteranopia, Red-green color blindness, Red-green colour blindness, Reduced red-green discrimination, Reduced red-green vision, Deutan defect (disorder), Reduced red-green discrimination (finding), deuteranomaly, deuteranopia
Czech Červenozelená barvoslepost, Deuteroanopie, Deuteranopie
Hungarian Vörös-zöld színvakság, Deutan defectus, Deuteranopia
Norwegian Rødgrønnblindhet, Rød-grønn-fargeblindhet, Fargeblindhet, rødgrønn, Rødgrønnfargeblindhet, Rødgrønnfargesvakhet
Japanese ２型２色覚, 2ｶﾞﾀ2ｼｷｶｸ, 2ｶﾞﾀｼｷｶｸ, ｾｷﾘｮｸｼｷｶｸｲｼﾞｮｳ, ２型色覚, 赤緑色覚異常
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Color Blindness, Blue (C0155017)

Concepts Disease or Syndrome (T047)
MSH D003117
ICD9 368.53
ICD10 H53.55
SnomedCT 51886007, 85049009
Dutch tritan-afwijking
French Tritanopie, Monochromatopsie du bleu, Cécité au bleu, Tritanomalie
German Tritan-Stoerung
Italian Difetto Tritan, Daltonismo blu, Cecità al blu, Tritanopia, Difetto tritan
Portuguese Tritanomalia
Spanish Defecto tritánico, tritanomalía (trastorno), tritanomalía, tritanopía (trastorno), tritanopía
English Color Blindness, Blue, tritan defect (diagnosis), tritan defect, Blue Color Blindness, Tritan Defect, blue color defect (physical finding), blue color defect, Tritan defect, Tritanomaly, Tritanopia, Tritan defect (disorder), Tritanopia (disorder), tritanomaly
Czech Tritanopie
Hungarian Tritan defectus
Norwegian Fargeblindhet, blå, Blåblindhet, Blåfargeblindhet, Blåfargesvakhet, Tritnaopi, Tritan fargessynsvekkelse
Japanese ３型色覚, 3ｶﾞﾀｼｷｶｸ
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Color blindness (C0242225)

Definition (MEDLINEPLUS)

Most of us see our world in color. We enjoy looking at a lush green lawn or a red rose in full bloom. If you have a color vision defect, you may see these colors differently than most people.

There are three main kinds of color vision defects. Red-green color vision defects are the most common. This type occurs in men more than in women. The other major types are blue-yellow color vision defects and a complete absence of color vision.

Most of the time, color blindness is genetic. There is no treatment, but most people adjust and the condition doesn't limit their activities.

Definition (NCI) The absence of or defect in the perception of colors.
Definition (CSP) partial or total inability to distinguish one or more chromatic colors.
Concepts Disease or Syndrome (T047)
MSH D003117
ICD9 368.5
ICD10 H53.5 , H53.50
SnomedCT 193683001, 155143000, 193685008, 53481002
French ACHROMATOPSIE, Daltonisme SAI, Cécité aux couleurs, Achromatopsie SAI, Cécité des couleurs, Daltonisme
English Color vision deficiencies, BLINDNESS COLOR, BLINDNESS COLOUR, Blindness, Color, Color blindness NOS, Color vision deficiency, Colour blindness NOS, Colour vision deficiency, Color Vision Deficiency, color blindness, color blindness (diagnosis), Colour blindness, uncategorized color blindness (diagnosis), uncategorized color blindness, Blindness color, Blindness colour, color blindness disorder, Blindness;colour vision, Deficiency;colour vision, color vision deficiency, Color blindness NOS (disorder), Colour blindness (disorder), No color perception, No colour perception, Color blindness (disorder), Color blindness, blindness; color blindness, color blindness; blindness, Color blindness, NOS, Colour blindness, NOS, Color Blindness, colour blindness, Blindness;color vision, Deficiency;color vision
Spanish ACROMATOPSIA, Ceguera para los colores NEOM, ceguera a los colores, no percepción de los colores, ceguera de color, SAI, ceguera al color, ceguera de color, SAI (trastorno), ceguera a los colores (trastorno), ceguera cromática, Ceguera para los colores
Italian Cecità per i colori, Cecità per i colori NAS, Cecità ai colori, Daltonismo
Dutch kleurenblindheid NAO, blindheid; kleurenblindheid, kleurenblindheid; blindheid, kleurenblindheid, Kleurenblindheid
German Farbenblindheit NNB, Farbenblindheit, FARBENBLINDHEIT
Portuguese Cegueira para cores NE, Cegueira para as cores, Cegueira para as cores NE, CEGUEIRA PARA CORES, Daltonismo
Czech barvoslepost, Barvoslepost NOS, Barvoslepost, poruchy barvocitu
Hungarian Amaurosis, szín, Színvakság k.m.n., Színvakság, Szín-amaurosis
Norwegian Fargeblindhet
Japanese 色覚異常ＮＯＳ, ｼｷｶｸｲｼﾞｮｳ, ｼｷｶｸｲｼﾞｮｳNOS, 色覚異常
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Cone monochromatism (C0339537)

Concepts Disease or Syndrome (T047)
MSH C536238
SnomedCT 24704003
English CBBM, BLUE CONE MONOCHROMATISM, BCM, Cone monochromatism, Blue cone monochromatism, Color blindness blue mono cone monochromatic type, BLUE CONE MONOCHROMACY, COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE, Colorblindness, Blue-Mono-Cone-Monochromatic Type, Cone monochromatism (disorder)
Spanish ceguera de colores para el verde y rojo, monocromatismo de conos (trastorno), monocromatismo de conos
Derived from the NIH UMLS (Unified Medical Language System)

Related Topics in Vision Disorders

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