II. Pathophysiology
- Each of three cone types contains a specific opsin photopigment, and each is encoded by a specific gene
- L-Cones (long wave length cones, yellow-orange, OPN1LW gene)
- M-Cones (middle wave length cones, yellow-green, OPN1MW gene)
- S-Cones (short wave length cones, blue-violet, OPN1SW gene)
-
Genetic Defects
- Red Green Color Blindness
- Genetic defect of OPN1LW or OPN1MW
- Abnormal opsin pigments or absent L-Cones or M-Cones
- Blue-Yellow Color Blindness
- Genetic defect of OPN1SW
- Defective S-Cones or premature destruction of S-Cones
- Complete Color Blindness (Blue Cone Monochromacy)
- Genetic defect in both OPN1LW and OPN1MW
- Defective L-Cones and M-Cones, leaving only functional S-Cones
- Red Green Color Blindness
- Acquired Defects
- Glaucoma
- Retinitis Pigmentosa
- Vitamin A Deficiency
- Alcoholism
- Toluene Poisoning
- Medications (e.g. Ethambutol, Phenytoin, Phosphodiesterase Inhibitor)
III. Types
- Red-Green Color Blindness
- Most common Color Blindness types
- Far more common in males (X-Linked)
- Males (1 in 12 of northern european descent)
- Females (1 in 200 of northern european descent)
- Difficulty distinguishing between red and green
- M-Cone Disorders (related to green Perception)
- L-Cone Disorders (related to red Perception)
- Blue-Yellow Color Blindness (Tritan defects)
- Less common Color Blindness types (<1 in 10,000 persons worldwide)
- Difficulty distinguishing between blue and green as well as blue and black
- S-Cone Disorders (related to blue Perception)
- Tritanomaly (dysfunctional S-Cones)
- Difficulty distinguishing between blue and green
- Difficulty distinguishing between yellow and red
- Tritanopia (loss of S-Cones)
- Difficulty distinguishing between blue and green
- Difficulty distinguishing between purple and red
- Difficulty distinguishing between yellow and pink
- Colors appear dull
- Tritanomaly (dysfunctional S-Cones)
- Complete Color Blindness (Blue Cone Monochromacy, Achromatopsia)
- Rare (<1 in 100,000 persons worldwide)
- Autosomal Recessive genetic disorder
- Results in severe reduction in color Vision and poor Visual Acuity
- May also be associated with photophobia, Nystagmus and Myopia
IV. Diagnosis
- Color Vision Test (e.g. Ishihara Color Test)
V. Management
- Treat underlying causes in acquired Color Blindness
- Eyeglass or Contact Lens colored filters may enhance color contrast and differentiation
VI. Resources
- Color Blindness (NIH, for patients)
- Color Vision Deficiency (Medline Plus)
VII. References
- Naifeh (2021) Color Vision, Stat Pearls, accessed 12/13/2021