A

Anomalous Trichromats contain a specific photopigment, which is most

sensitive to a specific spectrum of light. The brain
Naomi Fischer combines input from all the three cell types to
Department of Ophthalmology, Tel Aviv interpret color. S-cones are sensitive to short wave-
Sourasky Medical Center, Sackler Faculty of lengths with normal peak absorption at approxi-
Medicine, Tel Aviv University, Tel Aviv, Israel mately 420 nm (blue [tritan] light receptors).
M-cones are sensitive to medium wavelengths
and normally peak at about 540 nm (green [deutan]
Synonyms light receptors). L cones are sensitive to long-
wavelength light and their normal peak is at about
Color “blindness”; Color vision deficiency 560 nm (red [protan] light receptors). Anomalous
trichromats have three types of cones, but one of
the three types has a spectral sensitivity shifted
Definition from the normal cones (Sharpe and Gegenfurtner
2001; ebook: Color blind essentials 2016).
Anomalous trichromacy (a type of color vision Nathan et al. (1986) isolated the genes encoding
deficiency) is an alteration in the spectral sensitivity the S, M, and L-cone opsins (Nathan et al. 1986).
of one of the three cone cell receptors in the retina Long-wavelength (L) and middle-wavelength
that make up the color spectrum (Fig. 1) (Dartnall (M) genes share over 98 % nucleotide identity
et al. 1983; ebook: Color blind essentials 2016). and are found on the X-chromosome at Xq28
(genetic designation OPN1LW and OPN1MW,
respectively) with a normal variability in the num-
Etiology ber of these genes per chromosome. The gene for
the short-wavelength (S) cone opsin shares only
In the nineteenth century, Thomas Young and about 40 % nucleotide similarity with the other
Hermann von Helmholtz theorized that human opsin genes. It is found on chromosome 7 at 7q32
color vision is composed of a combination of (OPN1SW) (Parker and Parker 2007).
three colors “trichromatic” (red, blue, and green). Genetic causes of anomalous trichromacy are
Color perception in the human eye is attributed to due to inherited mutations in these genes. Red and
three different types of cone photoreceptor (opsin) green visual anomalies (L and M opsins) are most
cells. Gunner Svaetichin (1956) proved the exis- common and are X-linked recessive. The L and
tence of these cells and their sensitivity to different M genes are adjacent to each other on the
wavelength ranges (Svaetichin 1956). They X-chromosome and as they are nearly identical,
# Springer-Verlag Berlin Heidelberg 2015
U. Schmidt-Erfurth, T. Kohnen (eds.), Encyclopedia of Ophthalmology,
DOI 10.1007/978-3-642-35951-4_990-1
2 Anomalous Trichromats

Anomalous Trichromats, 420 495 530 560

Fig. 1 Human cone 1.0
absortion cuves
(normalized to equal peak
absorptance (1.0) on a linear
vertical scale; wavelength
0.8
of peak absorptance in
italics, number of
photoreceptors measured
for each curve at base of
curve (Data from Dartnall 0.6
relative absorptance

et al. 1983; Bowmaker and

Mollon 1983). (Bruce
MacEvoy 2009)
0.4

0.2

58
45
V’ 5 39
0.0

S M L
370 400 500 600 670
wavelength (nanometers)

misalignment of these genes can occur between increased efficiency to short wavelengths is found
parent chromosomes leading to recombinant in central serous chorioretinopathy and age-related
crossovers between the two genes. Protanomaly macular degeneration. Type 3b tritanomaly is
makes the L-cone more like the M-cone and deu- found in rod and rod-cone dystrophies, retinal vas-
teranomaly makes the M-cone more like the cular disorders, peripheral retinal lesions, glau-
L-cone. With the absorption maxima of the coma, and autosomal-dominant optic atrophy
cones shifting closer together, the ability to dis- (Birch 2001). Drugs including digoxin, ethambu-
cern reds and greens decreases. Defects in the blue tol, chloroquine, hydroxychloroquine, phenytoin,
opsin (S) are inherited in an autosomal-dominant and sildenafil can also cause color vision deficits as
fashion and cause difficulty in distinguishing the well as toxins such as lead, alcohol, and tobacco.
blue-yellow spectrum, which is known as
tritanomaly (Parker and Parker 2007).
Acquired causes of color vision deficiency are Clinical Presentation
due to damage along the conducting paths of the
optical system. Type 1 (red-green) mimics Anomalous trichromacy presents as a smaller
protanomaly due to more efficient short- color spectrum.
wavelength processing and is associated with pro- Protanomaly presents as “red weakness” in
gressive cone dystrophy and retinal pigment epi- terms of color power (saturation/depth of color)
thelium dystrophies. Type 2 (red-green) resembles and brightness and red is perceived as much darker.
deuteranomaly but with a greater reduction in Deuteranomaly presents as “green weakness.”
short-wavelength sensitivity and is associated In both protanomaly and deuteranomaly, the
with optic neuritis. Type 3a tritan type with main axis of colors of confusion is the same: red,
Anomalous Trichromats 3

orange, yellow green, and brown. However, the were a predecessor to the most famous type
colors of the confusion for blue-purple hues are of color-blind test plates, the Ishihara plate test
perceived very differently between the groups. (Ishihara 1917). Patterns of differently colored
Protanomaly defects may see violet shades as dots, which correspond to colors of confusion,
blue as the red component is weakened are used to differentiate color deficiencies.
(colorvisiontesting.com). Types of plates include vanishing design
Tritanomaly presents as a difficulty in where only people with good color vision can
distinguishing between yellow and blue. see the design, transformation design where
color-blind people see a different sign to nor-
mal color vision, and hidden digit design
where only color-blind people see the design
Diagnosis
and classification design which differentiates
deutan from protan defects. Ishihara plates
There is a range of color blindness tests in diag-
only differentiate red-green vision deficien-
nosis of color vision deficiency. Seebeck devel-
cies. The 24 HRR (Hardy et al. 1954) plates
oped color matching without the use of color
also include tritan defects (Hardy et al. 1954).
naming in 1837 in which sample color was
• Arrangement tests: These also are base on
matched to more than 300 colored papers. This
copunctal points and dynamic test-colored
was the basis for the Holmgren wool test (1877) in
disks or plates have to be arranged in the cor-
which skeins of colored wool are matched (ebook:
rect order. These tests include the Farnsworth
Color blind essentials 2016).
D-15 arrangement test, Farnsworth-Munsell
Modern color vision deficiency testing:
100 hue test, and Lanthony desaturated
D-15 test.
• Anomaloscope: This is based on the Rayleigh
• Lanterns: These are most often used as voca-
match in which a mixture of red and green light
tional tests and were introduced by railway
sources has to be matched with a yellow light
companies to establish whether employees
source. It is probably the most precise com-
could distinguish signals. These include
mercially available diagnostic test. This
Holmes-Wright, Farnsworth (Falant), Beyne
enables discovery of red-green color defi-
lantern, Giles-Archer, and Eldridge-Green
ciency. Some anomaloscopes also include the
lanterns.
Moreland match (blue-green), which tests for
• Computer-based testing:
tritan defects. People with protan defects use
• Genetic testing (in parallel to physical
more red as opposed to deuteranomaly where
testing).
more green is used for matching.

The International Commission on Illumination

defined a color space chromaticity diagram in Differential Diagnosis
1931(CIE31), which is the basis for many of the
currently employed color vision tests. A graph was • Dichromacy (one cone type missing)
compiled based on subjects matching a test light • Monochromacy (two cone types missing)
color source to three adjustable light sources (red, • Complete achromatopsia (rod
green, and blue). Confusion lines defined the colors “monochromacy”) – all cone types missing
that were hard to differentiate by color-blind peo- • Cerebral achromatopsia/dyschromatopsia
ple, with the copunctal points being where they • Disorders of the ocular media
converged (Smith and Guild 1931–32; CIE 1932). • Macular detachment
• Cone dystrophies/degeneration
• Pseudoisochromatic plates: The first • Macular dystrophies/degeneration
published plates were by J. Spelling, which • Vascular and hematologic diseases
4 Anomalous Trichromats

• Glaucoma and optic nerve disease (e.g., of European descent. Deuteranomaly is the most
autosomal-dominant optic atrophy) common affecting 4.63 % men and 0.36 %
• Diseases of the central nervous system (e.g., females. Protanomaly affects 1.08 % males and
multiple sclerosis) and other organs (e.g., dia- 0.03 % females (male predominance due to
betes mellitus) x-linked recessive inheritance). Tritanomaly is
• Toxic agents and drugs (see list under autosomal dominant and so is found equally in
“Etiology”) men and women (ebook: Color blind essentials
2016).

Prophylaxis
Cross-References
There is currently no prophylaxis for anomalous
trichromacy. With improving genetic testing, ▶ Cone Dystrophies/Degeneration
identification of mutated genes may be possible. ▶ Hereditary Ocular Disease/Conditions
▶ Ishihara Test

Therapy
References
There is presently no cure for color-blind people.
Neitz et al. have shown genetic therapy with Birch J (2001) Diagnosis of defective colour vision, 2nd
edn. Butterworth-Heinemann, Boston
subretinal injection of the missing genes in mon- CIE (1932) Commission internationale de l’Eclairage pro-
keys to improve color vision (Neitz and Neitz ceedings, 1931. Cambridge University Press,
2011). Cambridge
Colored filters (lenses, glasses, or tools such as Colorvisiontesting.com. Last accessed 28 Aug 2016
Dartnall HJA, Bowmaker JK, Mollon JD (1983) Human
the Seekey) are available and are used over one visual pigments microspectrophotometric results from
eye to improve distinguishing between colors. the eyes of seven persons. Proc R Soc Lond Ser B
There is also a range of computer-based tools 220:115–130
available in aiding color-deficient people. ebook: Color blind essentials. By Daniel from Colblindor.
www.colblindor.com. Last accessed 28 Aug 2016
If the cause of color deficiency is acquired, Hardy LH, Rand G, Rittler MC (1954) HRR polychromatic
then the underlying disease should be targeted plates. J Opt Soc Amer 44:509–523
appropriately or the offending drug/toxic agent Ishihara S (1917) Tests for color-blindness. Hongo
removed. Harukicho, Handaya
Nathan J, Thomas D, Hogness DS (1986) Molecular genet-
ics of human colour vision: the genes encoding the
blue, green, and red pigments. Science 232
Prognosis (4747):193–202
Neitz J, Neitz M (2011) The genetics of normal and defec-
Hereditary abnormal trichromacy is a stable tive color vision. Vision Res 51(7):633–651
Parker JN, Parker PN (2007) Color vision deficiency.
condition. A bibliography and dictionary for physicians, patients
and genome researchers
Sharpe LT, Gegenfurtner KR (2001) Color vision: from
Epidemiology genes to perception
Smith T, Guild J (1931–32) The C.I.E. colorimetric stan-
dards and their use. Trans Opt Soc 33(3):73–134.
Color vision deficiency is a very common condi- doi:10.1088/1475-4878/33/3/301
tion affecting approximately 8 % of men and Svaetichin G (1956) Spectral response curves from single
0.5 % of women. It is most common in people cones. Actaphysiol Scand 39(Suppl 134):17–46