The genetics of normal and defective color vision

Neitz, Jay; Neitz, Maureen

doi:10.1016/j.visres.2010.12.002

Cited by 312 publications

(300 citation statements)

References 171 publications

(250 reference statements)

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“…As a result, the differences between young and old in the substrate for S-cone OFF response can be ascribed to neural factors. Losses in the neural substrate of S-cone OFF temporal responses in the elderly may be important under natural conditions not only for the retinal circuitry of color vision but for the evolutionarily more ancient function of regulating the biological clock (42).…”

Section: Discussionmentioning

confidence: 99%

Aging of human short-wave cone pathways

Shinomori

Werner

2012

Proc. Natl. Acad. Sci. U.S.A.

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The retinal image is sampled concurrently, and largely independently, by three physiologically and anatomically distinct pathways, each with separate ON and OFF subdivisions. The retinal circuitry giving rise to an ON pathway receiving input from the short-wave-sensitive (S) cones is well understood, but the S-cone OFF circuitry is more controversial. Here, we characterize the temporal properties of putative S-cone ON and OFF pathways in younger and older observers by measuring thresholds for stimuli that produce increases or decreases in S-cone stimulation, while the middle-and long-wave-sensitive cones are unmodulated. We characterize the data in terms of an impulse response function, the theoretical response to a flash of infinitely short duration, from which the response to any temporally varying stimulus may be predicted. Results show that the S-cone response to increments is faster than to decrements, but this difference is significantly greater for older individuals. The impulse response function amplitudes for increment and decrement responses are highly correlated across individuals, whereas the timing is not. This strongly suggests that the amplitude is controlled by neural circuitry that is common to S-cone ON and OFF responses (photoreceptors), whereas the timing is controlled by separate postreceptoral pathways. The slower response of the putative OFF pathway is ascribed to different retinal circuitry, possibly attributable to a sign-inverting amacrine cell not present in the ON pathway. It is significant that this pathway is affected selectively in the elderly by becoming slower, whereas the temporal properties of the S-cone ON response are stable across the life span of an individual. O ne of the most basic properties of primate vision is that each point in the retinal image is sampled by at least three physiologically and anatomically distinct pathways (1, 2). These include a fast, high-contrast sensitivity, low-spatial resolution magnocellular pathway; and a slower, high-spatial resolution, chromatic parvocellular pathway. A third pathway, the koniocellular pathway, is color-opponent and slow, and it has poor spatial resolution. Overlaid onto the organization of these pathways are subdivisions into parallel ON and OFF systems (3). This originates at the first retinal synapse between the cone photoreceptor and the bipolar cell to give rise to the magnocellular or parvocellular pathways, resulting in further specialization and response selectivity for spatiotemporal luminance and/or chromatic increments (ON pathway) or decrements (OFF pathway). The assumption that detection of increments and decrements is mediated by separate ON and OFF pathways is supported by the work of Schiller et al. (4) in alert, behaving monkeys. During retinal infusion of the glutamate neurotransmitter analog 2-amino-4-phosphonobutyrate, which blocks synaptic transmission from cones to ON-bipolar cells but not OFFbipolar cells, there is a profound loss in the ability to detect increments but not decrements. A number of oth...

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Section: Discussionmentioning

confidence: 99%

Aging of human short-wave cone pathways

Shinomori

Werner

2012

Proc. Natl. Acad. Sci. U.S.A.

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“…dichromacy | aesthetic preference | color vision | color naming I ndividuals vary in their perceptual experience of the world, and sometimes this variation is caused by genetic differences (1)(2)(3)(4). Dichromacy is a form of color-vision deficiency affecting about 2% of human males in which only two of the three types of retinal cone photoreceptors are functional because of genetic factors (1,2).…”

mentioning

confidence: 99%

“…Dichromacy is a form of color-vision deficiency affecting about 2% of human males in which only two of the three types of retinal cone photoreceptors are functional because of genetic factors (1,2). Protanopes, deuteranopes, and tritanopes lack cone photoreceptors sensitive to long (L), medium (M), and short (S) wavelengths, respectively.…”

mentioning

confidence: 99%

Color preference in red–green dichromats

Álvaro

Moreira

Lillo

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

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Around 2% of males have red-green dichromacy, which is a genetic disorder of color vision where one type of cone photoreceptor is missing. Here we investigate the color preferences of dichromats. We aim (i) to establish whether the systematic and reliable color preferences of normal trichromatic observers (e.g., preference maximum at blue, minimum at yellow-green) are affected by dichromacy and (ii) to test theories of color preference with a dichromatic sample. Dichromat and normal trichromat observers named and rated how much they liked saturated, light, dark, and focal colors twice. Trichromats had the expected pattern of preference. Dichromats had a reliable pattern of preference that was different to trichromats, with a preference maximum rather than minimum at yellow and a much weaker preference for blue than trichromats. Color preference was more affected in observers who lacked the cone type sensitive to long wavelengths (protanopes) than in those who lacked the cone type sensitive to medium wavelengths (deuteranopes). Trichromats' preferences were summarized effectively in terms of cone-contrast between color and background, and yellow-blue cone-contrast could account for dichromats' pattern of preference, with some evidence for residual red-green activity in deuteranopes' preference. Dichromats' color naming also could account for their color preferences, with colors named more accurately and quickly being more preferred. This relationship between color naming and preference also was present for trichromat males but not females. Overall, the findings provide novel evidence on how dichromats experience color, advance the understanding of why humans like some colors more than others, and have implications for general theories of aesthetics.dichromacy | aesthetic preference | color vision | color naming I ndividuals vary in their perceptual experience of the world, and sometimes this variation is caused by genetic differences (1-4). Dichromacy is a form of color-vision deficiency affecting about 2% of human males in which only two of the three types of retinal cone photoreceptors are functional because of genetic factors (1, 2). Protanopes, deuteranopes, and tritanopes lack cone photoreceptors sensitive to long (L), medium (M), and short (S) wavelengths, respectively. Accordingly, dichromats' color discrimination is poorer, and their spectral sensitivity is slightly shifted to longer wavelengths (deuteranopes) or is moderately shifted to shorter wavelengths (protanopes) compared with that of normal trichromats (common observers; see table 3.6 in ref. 5).In normal trichromats, cone responses are the input signals for two chromatic cone opponent mechanisms, red-green and yellowblue, based on L−M and S−(L+M) cone responses, respectively, and one achromatic mechanism, mainly based on L+M responses (1). Traditionally it has been considered that protanopes and deuteranopes lack functionality in the red-green mechanism, because this opponent mechanism is based on the comparison of L and M cone responses, and one...

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“…Colorimetry and Image Processing Nevertheless, the use of pseudoisochromatic lines to characterize the color confusions of dichromats is limited mainly due to the following factors: (1) the existence of individual differences in relation to the spectral sensitivities of the cones in a given group of dichromats [2,3] and (2) the existence of residual red-green discrimination in the major part of red-green dichromats for color stimuli over 3° of visual angle, revealed by the fact that red-green dichromats behave as anomalous trichromats for large-field stimuli ( [8,9]), as well as the existence of residual S cone function in some observers diagnosed as tritanopes [3].…”

Section: Chromaticity Diagrams and Confusion Linesmentioning

confidence: 99%

“…Dichromats only have two types of functional cones due to genetic factors [2,3]. Protanopes, deuteranopes, and tritanopes lack L, M, or S cones, respectively.…”

Section: Introductionmentioning

confidence: 99%

Colorimetry and Dichromatic Vision

Moreira¹,

Álvaro²,

Melnikova³

et al. 2018

Colorimetry and Image Processing

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Normal trichromats have three types of cone photoreceptors: L, M, and S cones (most sensitive to long, medium, or short wavelengths, respectively). Therefore, standard colorimetry is based on three variables (X, Y, Z). Dichromats only have two types of functional cones due to genetic factors. The main consequences are that dichromats (1) confuse colors that can only be discriminated by the response of the type of cone they lack and (2) make errors when naming colors. Chromaticity diagrams can be used to specify dichromats' color confusions. Confusion points represent imaginary stimuli that only activate L, M, or S cones. Confusion lines radiate from confusion points and represent pseudoisochromatic stimuli (i.e., colors confused by the corresponding type of dichromat if presented at an appropriate intensity). Dichromat's color appearance models have been developed to simulate the colors supposedly seen by dichromats, and there exist color simulation tools that implement some of those models.

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The genetics of normal and defective color vision

Cited by 312 publications

References 171 publications

Aging of human short-wave cone pathways

Aging of human short-wave cone pathways

Color preference in red–green dichromats

Colorimetry and Dichromatic Vision

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