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PubMedDate not supplied

Correlation of gene structure and psychophysical measurement in red-green color vision deficiency in Chinese.

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.

Blotting, Southern↗
PubMed1997

Parallel increase of heterochromatic increment threshold and postadaptation thresholds in Parkinson's disease and in neuroleptic treatment.

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.

Adaptation, Ocular↗
PubMed1998

Colour vision in AIDS patients without HIV retinopathy.

Patients suffering from AIDS develop ocular complications, the most frequent being HIV retinopathy. It is however not clear, if functional visual impairments can be observed as early indicators of ocular complications, before clinical diagnosis of HIV retinopathy is made at fundus examination. To address this issue, we measured colour vision in a group of 49 AIDS subjects with normal clinical fundi using the 'two equation method'. This method, combining red-green Rayleigh and the blue-green Moreland metameric matches, enables more complete and quantitative assessments of colour vision than those based on pigmentary tests. Data were collected on our computer controlled colorimeter and compared to those of normal subjects. While most AIDS subjects without HIV retinopathy demonstrated normal colour vision, a significant portion of them had wider matches than normal subjects (11% for the Rayleigh equation and 16% for the Moreland equation). Furthermore, matching ranges of the Moreland equation were significantly correlated with CD4 lymphocyte counts. Patients with low CD4 values tended to produce larger matching ranges than the patients with high CD4 values. A within subject study on 17 patients confirmed this trend and showed that the patients who increased/decreased their CD4 blood counts generally improved/impaired their colour discrimination in the Moreland match. No such correlation was found between the matching ranges of the Rayleigh equation and the CD4 counts. These results show that colour discrimination is slightly reduced in some AIDS subjects, although there are no detectable ocular complications. They also suggest two different types of colour vision impairments in AIDS patients without retinopathy: one reversible process affecting colour discrimination in the blue-green range; and another irreversible process affecting colour discrimination in the red-green range.

Acquired Immunodeficiency Syndrome↗
PubMed1998

On derivation of spectral sensitivities of the human cones from trichromatic colour matching functions.

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.

Color Perception↗
PubMed1998

Human cone spectral sensitivities: a progress report.

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.

Color Perception↗
PubMed1999

Analysis of red/green color discrimination in subjects with a single X-linked photopigment gene.

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.

Adaptation, Ocular↗
PubMed1999

L, M and L-M hybrid cone photopigments in man: deriving lambda max from flicker photometric spectral sensitivities.

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.

Adult↗
PubMed2003

Color vision.

Many visual disorders produce acquired color vision defects. Color vision theory emphasizes several stages of visual processing: prereceptoral filters (lens, macular pigment, pupil), cone photopigments (L-, M-, and S-cones), and postreceptoral processes (red-green, S-cone, and luminance channels). Congenital color defects, which affect 8% to 10% of males and 0.4% to 0.5% of females, result from alterations in the photopigment absorption spectra or the absence of one or more photopigments. The most common defects are color vision deficiencies (protan and deutan defects), which are milder than the rarer achromatopsias (complete loss of color vision). Acquired color vision defects can be attributed to a number of different causes: alteration of prereceptoral filters, reduced cone photopigment optical density, greater loss of one cone type than the others, and disruption of postreceptoral processes. Acquired color vision defects have been divided into three classes: type 1, red-green defect with scotopization; type 2, red-green defect without scotopization; and type 3, blue defects (with or without pseudoprotanomaly). Blue defects are usually type 3 acquired defects because congenital tritan defects have an incidence of one in several tens of thousands. Red-green defects can be acquired or congenital, and ruling out acquired defects can require a battery of tests (plates and arrangement tests, anomaloscopy, perhaps genetic analysis). Color vision tests must be administered carefully (with a standard illuminant and protocol), and pupillary miosis or high lens density should be noted and their possible effects considered when interpreting test results. Plate tests provide a simple screening method but do not provide a diagnosis. Arrangement tests and anomaloscope testing take more time and make greater demands on the tester, but they provide a more thorough evaluation. When standard protocols are followed and results are interpreted in terms of prereceptoral filters, photopigment optical density, cone loss, and disruption of postreceptoral processes, a battery of color vision tests can be useful in the differential diagnosis, after progression of the disease, and for evaluating the effectiveness of treatment.

Color Perception↗
PubMed2002

Color discrimination in schizophrenia.

Neuropsychiatric conditions that involve dopaminergic depletion have been associated with color discrimination deficits along the blue-hue (tritan, or short-wavelength-sensitive) axis. Because dopamine dysregulation may be a major factor in schizophrenia, we investigated color vision in this disorder. The performance of males with schizophrenia (SZ, n = 16) and normal male control subjects (CS, n = 14) was evaluated on five measures of color discrimination. SZ made more hue discrimination errors than CS, but no pattern emerged regarding a hue-specific axis of deficit. Dosage of anti-psychotic medication was not correlated with performance on hue discrimination. These results suggest that in medicated patients with schizophrenia, the dopaminergic disturbance, which may involve system hyperactivity, does not produce tritan-specific color deficits that have been observed in disorders involving dopaminergic hypoactivity.

Adult↗
PubMedDate not supplied

Quantification of color vision with cone contrast sensitivity.

Human color vision is based fundamentally on three separate cone photopigments. Hereditary color deficiency, which affects up to 10% of males, results from an absorption shift or lack of L or M cone phototoreceptors. While hereditary S cone deficiency is rare, decreased S cone sensitivity occurs early in eye disease, underscoring the importance of quantifying S cone function. Our purpose is to describe a novel approach for quantifying human color vision based on the photopigments of normal color vision. Colored letters, visible to a single cone type, are presented in graded steps of cone contrast to determine the threshold for letter recognition. This approach quantifies normal color vision, indicates type and severity of hereditary deficiency, and reveals sensitivity decrements in various diseases.

Color Perception↗
PubMedDate not supplied

Ability of the D-15 panel tests and HRR pseudoisochromatic plates to predict performance in naming VDT colors.

Color codes in VDT displays often contain sets of colors that are confusing to individuals with color-vision deficiencies. The purpose of this study is to determine whether individuals with color-vision deficiencies (color defectives) can perform as well as individuals without color-vision deficiencies (color normals) on a colored VDT display used in the railway industry and to determine whether clinical color-vision tests can predict their performance. Of the 52 color defectives, 58% failed the VDT test. The kappa coefficients of agreement for the Farnsworth D-15, Adams desaturated D-15, and Richmond 3rd Edition HRR PIC diagnostic plates were significantly greater than chance. In particular, the D-15 tests have a high probability of predicting who fails the practical test. However, all three tests had an unacceptably high false-negative rate (9.5-35%); so that a practical test is still needed.

Color Perception↗
PubMedDate not supplied

Computerized color-vision test based upon postreceptoral channel sensitivities.

An automated, computerized color-vision test was designed to diagnose congenital red-green color-vision defects. The observer viewed a yellow appearing CRT screen. The principle was to measure increment thresholds for three different chromaticities, the background yellow, a red, and a green chromaticity. Spatial and temporal parameters were chosen to favor parvocellular pathway mediation of thresholds. Thresholds for the three test stimuli were estimated by four-alternative forced-choice (4AFC), randomly interleaved staircases. Four 1.5-deg, 4.2 cd/m2 square pedestals were arranged as a 2 x 2 matrix around the center of the display with 15-minute separations. A trial incremented all four squares by 1.0 cd/m2 for 133 ms. One randomly chosen square included an extra increment of a test chromaticity. The observer identified the different appearing square using the cursor. Administration time was approximately 5 minutes. Normal trichromats showed clear Sloan notch as defined by log (deltaY/deltaR), whereas red-green color defectives generally showed little or no Sloan notch, indicating that their thresholds were mediated by their luminance system, not by the chromatic system. Data from 107 normal trichromats showed a mean Sloan notch of 0.654 (SD = 0.123). Among 16 color-vision defectives tested (2 protanopes, 1 protanomal, 6 deuteranopes, & 7 deuteranomals), the Sloan notch was between -0.062 and 0.353 for deutans and was < -0.10 for protans. A sufficient number of color-defective observers have not yet been tested to determine whether the test can reliably discriminate between protans and deutans. Nevertheless, the current data show that the test can work as a quick diagnostic procedure (functional trichromatism or dichromatism) of red-green color-vision defect.

Automation↗
PubMedDate not supplied

Moreland match revisited.

An earlier analysis, which yielded an optimal pair of blue and green primaries (436 & 490 nm) for tritanomaloscopy, is reevaluated. That analysis minimized population variance in the mid-match points of color normals by taking into account, for a set of blue and green tritanopic metamers, the contributions of the lens and macular pigment variances and of matching range. The revision to the matching-range contribution takes into account the effect, neglected in the original analysis, of the varying angle between the blue-green primary mixture lines and the corresponding cyan test and yellow desaturant mixture lines. Use is made of new measurements of the macular pigment absorbance spectrum, a new estimate of the lens absorbance spectrum, the population variances of the lens and macular pigment, and of matching-range data for a current Moreland equation. Tritanopic metamers are derived from a revised set of cone fundamentals. The net effect of all of these revisions on the specification of optimal primaries is small (440 and 488 nm). However, larger changes are involved in the choice of test and desaturant wavelengths.

Color↗
PubMedDate not supplied

Evaluation of an updated HRR color vision test.

The HRR pseudoisochromatic plate (pip) test was originally designed as a screening and diagnostic test for color vision deficiencies. The original HRR test is now long out of print. We evaluate here the new 4th edition of the HRR test, produced in 2002 by Richmond Products. The 2002 edition was compared to the original 1955 edition for a group of subjects with normal color vision and a group who had been previously diagnosed as having color vision deficiencies. The color deficient subjects spanned the range of severity among people with red-green deficiencies except for one individual who had a mild congenital tritan deficiency. The new test compared favorably with the original and in at least two areas, outperformed it. Among subjects with deutan defects the classification of severity correlated better with the anomaloscope results than the original; all the subjects who were classified as dichromats on the anomaloscope were rated as "severe" on the new HRR, while those diagnosed as anomalous trichromats were rated as mild or medium on the new test. Among those with moderate and severe defects the new test was highly accurate in correctly categorizing subjects as protan or deutan. In addition, a mild tritan subject made a tritan error on the new test whereas he was misdiagnosed as normal on the original.

Adult↗