Red-green blindness confined to one eye.
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We present estimates, based on psychophysical measurements, of the density of cones in the fovea centralis of human dichromats. The estimates for a group of three protanopes and three deuteranopes (this study) were compared to the estimates of the density of cones in a group of six color normal trichromats from previous studies (Cicerone & Nerger, 1985, 1989). The results support the conclusion that the density of cones in the fovea centralis of the dichromat is comparable to that of the color normal trichomat. These results tend not to support a model of dichromacy in which a class of cones as well as the associated pigment are lost in the dichromatic eye. Instead, dichromacy appears to involve a loss of one of the three visual pigments associated with human trichromacy, with a retention of the full numbers of cones.
In the theoretical section of the present paper, we develop our view of the roles played by the perceptual criteria: indistinguishably equal, neither blue nor yellow, neither green nor red, and heterochromatically equally bright. These criteria constitute a vectorial opponent-colour space, a concept used throughout the paper. Within this framework, two new theorems on psychophysical opponent-colour channels are stated. In the experimental section, the perceptual criteria are applied to the colour vision of an (extreme) deuteranomalous male. A quantitative perceptual description of his deuteranomaly is developed, the main constituents of which are measured deuteranomalous colour matching functions, the deuteranomalous opponent-colour functions derived from them and taking quantitative account of the Abney effect.
We evaluated colour vision in 35 dry-cleaners exposed to perchloroethylene (PCE) and in a paired number of controls matched for sex, age, alcohol consumption and cigarette smoking. A subclinical colour vision loss, mainly in the blue-yellow range, was present in dry-cleaners. This effect was related to PCE exposure levels, and appeared at environmental concentrations of the solvent well below the current exposure limits for exposed workers. The results suggest that PCE exposure, even at low environmental levels, can induce a dose-related impairment of colour vision.
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Eye donors were identified who had X-chromosome photopigment gene arrays like those of living deuteranomalous men; the arrays contained two genes encoding long-wavelength sensitive (L) pigments as well as genes to encode middle-wavelength sensitive (M) photopigment. Ultrasensitive methods failed to detect the presence of M photopigment mRNA in the retinas of these deutan donors. This provides direct evidence that deuteranomaly is caused by the complete absence of M pigment mRNA. Additionally, for those eyes with mRNA corresponding to two different L-type photopigments, the ratio of mRNA from the first vs. downstream L genes was analyzed across the retinal topography. Results show that the pattern of first relative to downstream L gene expression in the deuteranomalous retina is similar to the pattern of L vs. M gene expression found in normal retinas.
Protanopes and deuteranopes, despite lacking a chromatic dimension at the receptor level, use the color terms "red" and "green", together with "blue" and "yellow", to describe their color percepts. Color vision models proposed so far fail to account for these findings in dichromats. We confirmed, by the method of hue scaling, the consistent use of these color terms, as well as their dependence on intensity, in subjects shown to have only a single X-chromosomal opsin gene each. We present a model for the processing of photoreceptor signals which, under physiologically plausible assumptions, achieves a trichromat-like representation of dichromatic receptor signals. Key feature of the dichromat model is the processing of the photoreceptor signals in parallel channels with different gains and nonlinearities. In this way, the two-dimensional receptor signals are represented on a manifold in a higher-dimensional space, supporting categorization for efficient image segmentation. Introducing a third cone opsin yields a model that explains normal, trichromat hue scaling.
Carriers of X-linked color vision deficiencies have previously been reported to exhibit mild abnormalities of color matching and discrimination. In a sample of 55 carriers of protan and deutan deficiencies and 55 age-matched normal controls, we measured chromatic discrimination along a red-green axis. We found that discrimination was impaired in the case of carriers of deutan deficiencies (which affect the middle-wave-sensitive cones of the retina), but was normal in the case of carriers of protan deficiencies (which affect the long-wave-sensitive cones). We argue that this result can be explained by the difference in the relative numbers of middle- and long-wave cones in heterozygous retinae: the imbalance of the two cone types is predicted to be much greater in the case of the deutan heterozygote than in the case of the protan heterozygote. In future studies it will be necessary to consider separately the two types of heterozygote.
Color matches made with a Nagel anomaloscope are used in the differentiation of color vision deficiencies. When these color matches are made over a wide range of retinal illuminances, the changes in the color match provide information about the regeneration kinetics and the absorption spectra of the middle- and long-wavelength cone photopigments. These steady-state color matches vary with a variety of conditions, and may have value in screening for eye disease. Recently, high-brightness LEDs have become available that allowed us to construct a LED-based, high-brightness anomaloscope. We used inexpensive, low-energy components to replicate an earlier instrument, getting a maximum retinal illuminance over 5.6 log Trolands.
PURPOSE: To study the correlation of genotype for X-linked red-green gene array with color vision phenotype in 58 subjects with red-green color vision deficiency. METHODS: The molecular structure of red and green pigment genes on 58 X chromosomes was studied exon-by-exon by using heteroduplex-SSCP analysis and sequencing. The color vision of these subjects was determined by a Neitz anomaloscope. RESULTS: Variations in the red and green pigment genes were detected in 43 subjects and a hybrid gene was found in 27 subjects. About 50% of the fusion sites occurred at intron 2-3. All 3 anomalous trichromats with intron 4 fusion were mild type but another 3 with intron 2-3 fusion were severe type. No subjects with mild type of color vision defects had a fusion site at intron 2-3 or its upstream. Three subjects with complete deletion of the green pigment gene manifested deuteranomaly. CONCLUSIONS: Protans can be differentiated from deutans on the basis of genotype. It is still difficult to establish a clear correlation of different anomalous trichromats with genotype. The fusion site of a hybrid gene affects the phenotype to some degree. Intron 2-3 is the common place for gene crossover.
Following reports on a predominant loss of blue/yellow contrast sensitivity in Parkinson's disease, we revisited the physiological phenomenon of transient tritanopia. Normative data were collected from 33 healthy individuals using different colour and time combinations. Stimuli of 440 nm wavelength (blue) proved optimal, if flashed for 50 msec within the early phase of a 2 sec pause in the 600 nm adaptation light. These conditions were then applied to 15 patients with Parkinson's disease. We found a parallel increase of increment threshold (P < 0.001) and postadaptation thresholds (P < 0.01), with little change in the extent of transient tritanopia. The same tendency at a lower significance level was found in 15 psychiatric patients under chronic treatment with depot neuroleptics.
Despite the recent advance made by using the direct methods of retinal densitometry, microspectrophotometry and suction electrophysiology, the psychophysical approach based on colour matching data still remains an important source of accurate information about the spectral sensitivity of the cone photoreceptors in the human visual system. However, the commonly used technique of estimating cone sensitivities, based on the assumption that dichromacy is caused by the lack of one of the three types of the cone photoreceptors, requires the colour matching functions not only from trichromatic observers but from dichromats as well. Here we evaluate an alternative approach, originally put forward by Bongard and Smimov, that derives cone spectral sensitivities from colour matching functions only; without resorting to colour deficiency or any other data. When applied to CIE standard colour matching functions, this method yields curves of spectral sensitivities that are close to the classical Smith-Pokorny fundamentals, though the long-wave cone is shifted towards the short-wave region of the spectrum by 5 nm, as compared with Smith and Pokorny's results.
The spectral sensitivities of the short (S-), middle (M-) and long (L-) wave-sensitive cones have been measured in normal trichromats and in dichromats and monochromats of known genotype. For the S-cone sensitivities, three blue-cone monochromats and five normals were used; for the M-cone sensitivities, nine protanopes (three with a single L1M2 gene, three with a single L2M3 gene, one with both an L1M2 and an M gene, and two with both an L2M3 and an M gene); and for the L-cone sensitivities, 22 deuteranopes (five with a single L(ala180) gene and 17 with a single L(ser180) gene). We compare existing cone spectral sensitivity estimates with these results and with tritanopic color matches. The new findings are more consistent with the cone fundamentals of Stockman et al. (JOSA 1993(A10), 2491) than with those of Smith and Pokorny (Vision Research 1975(15), 161). The discrepancies that we find, however, are sufficient to warrant the replacement of both sets.
Many subjects despite having only a single X-linked pigment gene (single-L/M-gene subjects) are able to make chromatic discriminations by Rayleigh matching, especially when large fields are used. We used a combination of psychophysics (Rayleigh match), electroretinograms (ERG), and molecular genetic techniques to rule out several possible explanations of this phenomenon. Use of rods for chromatic discrimination was unlikely since strong adapting fields were employed and the large-field match results were not consistent with rod participation. A putative mid- to long-wavelength photopigment that escapes detection by current molecular genetic analysis was ruled out by finding only a single L/M photopigment in flicker ERGs from 16 single-L/M-gene subjects. Large-field match results were not consistent with participation of S cones. Amino acid sequence polymorphisms in the S-pigment gene that might have shifted the S cone spectrum towards longer wavelengths were not found on sequencing. The mechanism of chromatic discrimination in the presence of a single photopigment therefore remains unknown. Further possible explanations such as variations in cone pigment density and retinal inhomogeneities are discussed.
Using heterochromatic flicker photometry, we have measured the corneal spectral sensitivities of the X-chromosome-linked photopigments in 40 dichromats, 37 of whom have a single opsin gene in their tandem array. The photopigments encoded by their genes include: the alanine variant of the normal middle-wavelength sensitive photopigment, M(A180); the alanine and serine variants of the normal long-wavelength sensitive photopigment, L(A180) and L(S180); four different L-M hybrid or anomalous photopigments, L2M3(A180), L3M4(S180), L4M5(A180) and L4M5(S180); and two variants of the L-cone photopigment, encoded by genes with embedded M-cone exon two sequences, L(M2; A180) and L(M2; S180). The peak absorbances (lambda max) of the underlying photopigment spectra associated with each genotype were estimated by correcting the corneal spectral sensitivities back to the retinal level, after removing the effects of the macular and lens pigments and fitting a template of fixed shape to the dilute photopigment spectrum. Details of the genotype-phenotype correlations are summarized elsewhere (Sharpe, L. T., Stockman, A., Jägle, H., Knau, H., Klausen, G., Reitner, A. et al. (1998). J. Neuroscience, 18, 10053-10069). Here, we present the individual corneal spectral sensitivities for the first time as well as details and a comparison of three analyses used to estimate the lambda max values, including one in which the lens and macular pigment densities of each observer were individually measured.
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