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Spectral sensitivity in patients with dysthyroid eye disease.

The majority of patients with dysthyroid eye disease have an acquired colour vision defect. However, no psychophysical investigation of selective damage to colour or flicker pathways has been carried out. In order to clarify the nature of the visual pathology, we have used a psychophysical technique (spectral sensitivity) to selectively stimulate the chromatic and achromatic mechanisms. Spectral spots of size 1 degree presented at a rate of 1 Hz on a bright 1000 td white background are detected by the chromatic mechanism but a rate of 25 Hz reveals the achromatic mechanism. Fifteen patients (28 eyes) between the ages of 50-70 years were tested. The study showed that all patients had reduced spectral sensitivity, either 1 Hz, 25 Hz or both. The patients with reduced 1 Hz or 25 Hz spectral sensitivity only had a shorter systemic and ocular duration of the condition, had no proptosis, normal intraocular pressures in primary gaze, slightly higher intraocular pressures on upgaze, normal visual field plots and FM 100-Hue error scores higher than the normal age-matched values. The patients with reduced both 1 Hz and 25 Hz spectral sensitivities had a longer systemic and ocular duration of the condition, had proptosis, normal intraocular pressures in primary position, higher intraocular pressures on upgaze and higher FM 100-Hue error scores than the age-matched normals and those in Groups 1 and 2. A total of 50% of patients in Group 3 had defective visual field plots. These data suggest that there is a damage of the large achromatic fibres and small chromatic fibres in dysthyroid eye disease. The mechanism of the damage could be one of ischaemic or mechanical or both.

Aged↗

[Individual variations in color vision and its molecular biology].

Individual variations in normal color vision and congenital red-green color vision defects in Japanese males were investigated using both psychophysics and molecular biology techniques. 1. Normal color vision. We studied 72 Japanese males who were diagnosed as having normal color vision using the Ishihara plates test and Nagel model I anomaloscope. The structure of the gene arrays of the X-linked L- and M-pigment genes was determined using quantitative PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism). We found the following variations of the number of M-pigment genes: 27 (38%) of these men had only one M-pigment gene, 29 (40%) had two, 13 (18%) had three and 3 (4%) had four. Two common polymorphisms were found at amino acid residue 180 of both L- and M-opsin, of the total 56 (78%) were Ser and the other 16 (23%) were Ala in the L-pigment and of the total 65 (90%) were Ala and the other 7 (10%) were Ser in the M-pigment. The Rayleigh match midpoints fell within the normal range, however there were two fairly distinct groups with consistent differences in each group. The mean values of the proportion of red in a mixture of red and green were 0.564 +/- 0.026 (mean +/- standard deviation). Correlation was found only between the Rayleigh match midpoint and the polymorphism at residue 180 of L-pigment. In order to estimate the variations of L/M cone ratio in the retinae the spectral sensitivities using heterochromatic flicker method were measured. Using the hypothesis that the luminosity function is proportional to the sum of L- and M-cone spectral sensitivity (k L (lambda) + M (lambda)), the constant k values were obtained. The k values for the subjects with Ser180 and Ala180 L-pigment were 1.89 +/- 1.44 and 1.85 +/- 1.02 respectively. Furthermore, in order to study the variation of information processing system, the spectral sensitivities for 1 degree, 200-ms test flash on a white background were measured. Using the hypothesis that the spectral sensitivity is proportional to the difference of L- and M-cone spectral sensitivity (L (lambda) - k' M (lambda)), the k' values were obtained. The k' values for the subjects with Ser180 and Ala180 L-pigment were 1.38 +/- 0.06 and 1.49 +/- 0.07 respectively. As a result, it was suggested that there are individual variations in both the L/M cone ratio and the color opponent system. 2. Congenital red-green color vision deficiencies. We studied the structure of the gene arrays of the X-linked L- and M-pigment genes and investigated the relationship between genotype and phenotype in 21 Japanese males comprising 4 protanopia, 6 protanomaly, 7 deuteranopia and 4 deuteranomaly. All of the protan subjects had 5' L-M fusion gene with/without the M gene. All of the deutan subjects had a normal L gene with/without 5' M-L fusion gene. Genotype agreed with phenotype in 8 of 10 protan subjects and 10 of 11 deutan subjects. Two of them were diagnosed as abnormal trichromatism in spite of having only one gene. One of them was diagnosed as dichromatism in spite of having two genes that encoded spectrally different pigments. As a result, it was felt that the diagnosis of dichromacy and abnormal trichromacy with an anomaloscope has limitations.

Asian People↗

Quantitative anomaloscopy and optical coherence tomography scanning in central serous chorioretinopathy.

BACKGROUND: Dyschromatopsia is a prominent sign in a variety of central retinal diseases, such as central serous chorioretinopathy (CSC). The changes in colour vision may be due to either optical or neuronal factors in the diseased retina. The relative contribution from the two causes is unknown, but may be elucidated by obtaining knowledge of the anatomical derangement in the diseased retina in CSC. METHODS: Twenty-six normal persons had their colour vision tested using the Tomey anomaloscope. The calculation of setting range (SR) and central mean point (CMP) for Rayleigh match and Moreland match was optimized, and normal ranges for these values were defined. Subsequently 24 patients with CSC were examined by anomaloscopy and optical coherence tomography scanning, and the measures of colour vision were related to the anatomical changes observed on the scans. RESULTS: The algorithm for calculating SR and CMP which is integrated into the Tomey anomaloscope could be considerably improved to increase sensitivity and reproducibility of these measures. Fifteen patients had abnormal colour vision. Nine patients had pseudo-protanomaly, seven patients had pseudo-tritanomaly, and three patients had abnormalities in both matches. There was no relation between these colour vision abnormalities and the anatomical derangement as seen by OCT in the diseased central retina. CONCLUSION: The findings argue against the notion that the density of retinal cell nuclei, the orientation of photoreceptors, or the size of the central serous detachment are related to the colour vision abnormalities in CSC. The question of whether these abnormalities are due to optical or neuronal factors remains open.

Adult↗

Color vision defects in pigmentary retinal dystrophy.

Color vision was studied, using the Farnsworth Panel D-15 test, in 72 patients (115 eyes) with primary pigmentary retina dystrophy of autosomal recessive inheritance, and the results were correlated with the visual acuity and visual field. The incidence of color vision defects and the degree of disturbance increased as the visual acuity and the visual field deteriorated. However, even in cases with the visual acuity better than 0.7, type III acquired blue-yellow defect was found in 22% of the cases. This type of color vision defect was also found in 52% of the cases with the visual acuity between 0.4 and 0.6. In the group with the visual acuity of 0.1 or less, total achromatopsia was found in 64% of the cases. The increment thresholds of the blue and green cone mechanisms in the fovea were determined by the two-color threshold technique of Stiles in 12 patients with the visual acuity better than 0.8. The thresholds of the blue cone mechanism (pi 1) and of the green cone mechanism (pi 4) were found to be elevated over the normal values. The increases in the former and the latter thresholds were correlated linearly with the slope of the regression of 0.64. The increase in the threshold of the blue cone mechanism was more pronounced than that of the green cone mechanism. Due to the difference in the density of both cones in the fovea, this result does not necessarily support the hypothesis that the blue cone mechanism is affected preferentially more than the green cone mechanism.

Adolescent↗

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↗

The Farnsworth-Munsell 100 hue test in the first episode of demyelinating optic neuritis.

The Farnsworth-Munsell 100 hue test (F-M 100) was used to examine 30 patients with their first episode of unilateral demyelinating optic neuritis (DON) at presentation, after 6 weeks and after 6 months. Twelve patients satisfactorily completed the test with the affected eye at presentation. This number had increased to 23 by 6 weeks and to 27 by 6 months. No patient with a visual acuity of LogMAR 0.86 (Snellen equivalent approx 6/43) or worse, could complete the test. The mean total error score of affected eyes showed significant improvement at each subsequent examination but was always worse than the non-affected eyes. There was a significant correlation between total error scores and visual acuities of affected eyes at presentation and after 6 months. Fourteen patients recovered a visual acuity of LogMAR 0.0 (Snellen equivalent 6/6) or better but the total error scores of the affected eyes were significantly worse than the non-affected eyes (p = 0.017), indicating that defective colour vision is an indicator of a previous episode of DON despite the recovery of normal visual acuity. DON is reported to produce a red-green (Type II) axis of colour defect but individual F-M 100 polar diagrams were usually generally abnormal and did not show any predominance of recognisable axis of colour defect at any examination. Group averaging of the F-M 100 data from such a well-defined group of patients with acute DON revealed a significant bipolar abnormality in the tritan (blue-yellow) axis at presentation which was not demonstrated at the subsequent examinations or at any examination of the non-affected eyes.

Adult↗

Color axis evaluation of the Farnsworth Munsell 100-hue test in primary open-angle glaucoma and normal-pressure glaucoma.

BACKGROUND: It was the aim of the present study to analyze a separate color-axis evaluation of the Farnsworth Munsell 100-hue test (FM 100) in primary open-angle glaucoma (POAG) and normal pressure glaucoma (NPG). PATIENTS AND METHODS: One eye of each of 112 individuals (age 35-65 years, visual acuity > 20/28, myopia < -7.5 D) was included. The groups consisted of 62 normal subjects and 50 glaucoma patients (33 POAG and 17 NPG). We evaluated the FM 100 overall error score and the error scores of the protan, deutan and tritan axes. The results were compared with perimetric (Octopus G1 mean defect) and morphometric data of the optic disc. RESULTS: All error scores were significantly higher in the glaucoma group than in the normal group. In an age-related evaluation, differences were significant in age groups above 45 years. No significant differences were found between the POAG and NPG groups. The sensitivity of the overall score to identify glaucoma was 62% (specificity 80%). In the glaucoma group the overall score and the protan score increased significantly with the mean defect (r > 0.3, P < 0.01). Several scores increased slightly with decreasing neuroretinal rim area, but not on a significant level. Separate color-axis evaluations did not show any stronger correlations and did not reveal any differences between POAG eyes and NPG eyes. This was true even for the tritan axis error. CONCLUSIONS: Although FM 100 error scores are higher in glaucoma eyes and increase with glaucomatous damage, they do not separate well. In the sample of this study, separate color-axis evaluation did not improve the diagnostic value. With the FM100 a different pattern of color vision defects in POAG and NPG eyes could not be detected.

Adult↗

Quantitative assessment of color vision impairment in workers exposed to toluene.

Color vision was examined by the Lanthony-D-15 desaturated test in two groups of workers occupationally exposed to toluene and in a control group. Biological parameters of toluene exposure were analyzed: toluene in air and in venous blood, orthocresol, and hippuric acid in urine after workshift. The first exposed group, Group E1, comprised 41 workers (toluene exposure ranged from 11.30 to 49.30 ppm), and the second exposed group, Group E2, comprised 32 workers (toluene exposure ranged from 66.00 to 250.00 ppm). The nonexposed group, Group NE, comprised 83 subjects. Each group was divided into two subgroups; alcohol consumers and nonconsumers. Color vision loss was expressed as a color confusion index (CCI) and as age and alcohol intake-adjusted color confusion index (AACCI). Significantly higher values of CCI and AACCI (both P < 0.0001) in Group E2 in comparison to Group NE, and significantly higher CCI (P < 0.0001) and AACCI (P < 0.05) values in Group E2 in comparison to Group E1 were established. The significant difference in CCI value between alcohol consumers and nonconsumers was established only in Group NE (P < 0.05). In Group NE significant correlation was found between CCI value as a dependent and age and alcohol intake as independent cofactors (R2 = 0.45; P = 0.0000). In Group E2 significant correlation was established between CCI as a dependent factor and age, toluene in air, and alcohol intake (R2 = 0.72; P = 0.0001), or between CCI as dependent and age, toluene in blood and alcohol intake as independent cofactors (R2 = 0.68; P = 0.0002). In Group E1 significant correlation was established only between CCI and age (P <0.005). In Group E2, AACCI value significantly correlated with toluene in air (P < 0.0001), toluene in blood (r < 0.0005), orthocresol (P < 0.005) and hippuric acid (P < 0.005) in urine after workshift. There were no differences between smokers and nonsmokers in CCI values in the examined groups. Results of this study indicate that toluene in exposed workers can impair color vision. The role of alcohol intake and age influence on color vision loss cannot be ignored in such workers.

Adult↗

Classical tritanopia.

1. A subject who has suffered from central serous chorio-retinopathy in his left eye noticed differences in the colour of a given light as perceived by each eye alone. Standard screening tests (colour order and colour matching) indicated a tritan defect in the left eye; the right eye was normal on these tests.2. The subject was dichromatic in his left eye, trichromatic in his right. The left-eye distimulus colour-matching functions, spectral luminosity, and wave-length discrimination functions were indistinguishable from corresponding data for congenital tritanopia. Comparable right-eye data were normal.3. Spectral dichromatic colour matches were invariant under changes of intensity and under addition of a common light to both halves of the field. (Grassmann's laws of linearity are satisfied.)4. Increment threshold versus intensity (t.v.i.) curves for a blue (481.9 nm) test on a yellow background yielded the normal three branches (for Pi(4)(mu), Pi(1)(mu) and Pi(3)(mu) respectively) in the trichromatic eye. In the dichromatic eye a single mechanism was found. It had the field sensitivity of Pi(4)(mu) whether measured with the blue, or with a violet (429.5 nm) test. No trace of Pi(3)(mu) or Pi(1)(mu) was ever discovered in the tritanopic eye. Both are normal in the trichromatic eye.5. The field sensitivities of Pi(4), Pi(5) and Pi(3) of the normal eye are well fitted by linear combinations of the spectral colour-matching functions of the trichromatic eye. Pi(4) and Pi(5) of the dichromatic eye are well fitted by linear combinations of the tritanopic matching functions.6. Colour matches made by the trichromatic eye do not match when viewed by the tritanopic eye, almost certainly because the ocular media of the two eyes have wave-length-dependent differences in absorption. For the largest difference (430 nm) the trichromatic eye transmits about 2.2 times more light than its fellow. When allowance is made for these differences, the field sensitivities of Pi(4) and Pi(5) of the two eyes do not differ. The field sensitivities of Pi(4) and Pi(5) of the normal eye, on the other hand, differ significantly from those of the average spectra obtained on four normal trichromats by Stiles, in a way that cannot be attributed to differences in transmittance of ocular media.7. It is concluded that classical (or acquired) tritanopia is not distinguishable in its manifestations from congenital tritanopia; furthermore, tritanopia can be regarded as a reduced form of normal trichromacy, once allowances are made for absorption of the ocular media and for variations among normal trichromats.8. Despite extensive search no evidence could be uncovered which might exclude the hypothesis that the colour vision in tritanopia depends exclusively upon absorption in only two foveal cone pigments, one long-wave-absorbing and one medium-wave-absorbing.

Adult↗

Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.

OBJECTIVES: To identify a congenital nystagmus locus on the X chromosome and to characterize the phenotype of a 4-generation family affected with congenital nystagmus and color deficiency. METHODS: Sixty-five patients underwent an eye examination, including evaluation for the presence of nystagmus and color vision abnormalities. Affected patients and obligate carriers of the congenital nystagmus mutation were genotyped with short tandem repeat polymorphisms located on the X chromosome, and these data were subjected to linkage analysis. RESULTS: Fourteen patients were affected with a horizontal, conjugate, congenital nystagmus. All examined patients had a visual acuity of 20/60 or better. There were no associated ocular or systemic findings except that 18 of the family members had deficient red-green color vision, which was classified as deuteranomaly (the most common form of anomalous trichromacy). Five patients exhibited nystagmus and deuteranomaly. Significant linkage was demonstrated between the nystagmus phenotype and 11 markers from Xq. The maximum lod score was 4.84 (theta = 0) and was obtained with marker DXS8041. Analysis of recombinants defined the disease interval to lie between markers ATA59C05 and DXS1192 (a 5.4-centimorgan region). The proximity of this locus to the red-green opsin gene cluster (11 centimorgans more telomeric) explains the frequent coexistence of nystagmus and color vision deficiency in this family. CONCLUSIONS: We have identified the genetic locus of the X-linked congenital nystagmus gene in this family. The critical interval in this report is less than half the size of the previously described nystagmus locus. These findings will aid in identifying the gene responsible for this condition.

Chromosome Mapping↗

Molecular genetics of color vision and color vision defects.

Color is an extremely important component of the information that we gather with our eyes. Most of us use color so automatically that we fail to appreciate how important it is in our daily activities. It serves as a nonlinguistic code that gives us instant information about the world around us. From observing color, for example, we can find the bee sting on an infant's arm even before it begins to swell by looking for the little spot where the infant's skin is red. We know when fruit is ripe; the ripe banana is yellow not green. We know when meat is cooked because it is no longer red. When watching a football game, we can instantly keep track of the players on opposing teams from the colors of their uniforms. Using color, we know from a distance which car is ours in the parking lot--it is the blue one--and whether we will need to stop at the distant traffic light, even at night, when we cannot see the relative positions of red and green lights.

Color Perception↗

Dominant optic atrophy. The clinical profile.

We examined 24 individuals in four family pedigrees with dominantly inherited optic atrophy (DOA); 12 patients met the criteria for diagnosis of DOA and two were suspect. Our data indicate that (1) insidious onset usually occurred in childhood, but subjective visual symptoms may evolve in adulthood; (2) visual function was minimally (20/25) to moderately (20/400) abnormal, could be strikingly asymmetric in an individual (eg, 20/30 in the right eye and 20/200 in the left eye), and showed considerable intrafamilial and interfamilial variation; (3) visual field defects consisted of central and centrocecal scotomas, but no peripheral isopter abnormalities were found; (4) color-vision screening with Hardy-Rand-Rittler plates revealed dyschromotopsias, but only Farnsworth-Munsell 100-hue examination disclosed the typical tritan defects; (5) pattern-reversal visual-evoked responses were characterized by diminished amplitudes and prolonged latencies, consistent with neural conduction defects; (6) disc pallor was limited to the temporal segment in all cases, and 16 of 24 eyes showed focal temporal excavation, which is probably pathognomonic of DOA.

Adolescent↗

Abnormalities of cone photopigments in genetic carriers of protanomaly.

Anomaloscopic color matching was performed in 57 protanomalous boys. The relative luminous efficiencies of their mothers were measured by flicker photometry to clarify the characteristics of protanomaly carriers. The sensitivity loss of protanomaly carriers in the long wave-length region had a highly significant correlation with the anomalous quotients ( AQs ) of their protanomalous sons. This correlation means that both the luminous efficiencies of the protanomaly carriers and the AQs of their sons are determined by the same "anomalous" cone pigments.

Adolescent↗