An A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency.
(65/392)
We studied 247 Japanese males with congenital deutan color-vision deficiency and found that 37 subjects (15.0%) had a normal genotype of a single red gene followed by a green gene(s). Two of them had missense mutations in the green gene(s), but the other 35 subjects had no mutations in either the exons or their flanking introns. However, 32 of the 35 subjects, including all 8 subjects with pigment-color defect, a special category of deuteranomaly, had a nucleotide substitution, A-71C, in the promoter of a green gene at the second position in the red/green visual-pigment gene array. Although the -71C substitution was also present in color-normal Japanese males at a frequency of 24.3%, it was never at the second position but always found further downstream. The substitution was found in 19.4% of Chinese males and 7.7% of Thai males but rarely in Caucasians or African Americans. These results suggest that the A-71C substitution in the green gene at the second position is closely associated with deutan color-vision deficiency. In Japanese and presumably other Asian populations further downstream genes with -71C comprise a reservoir of the visual-pigment genes that cause deutan color-vision deficiency by unequal crossing over between the intergenic regions. (+info)
Pilot study on prevalence of color vision dysfunction in long-term solvent-exposed painters.
(66/392)
Main purpose of our study was to examine whether painters with long-term exposure to mixtures of organic solvents show slight dysfunctions in color vision ability. The study population consisted of 140 men with chronic exposure to organic solvents from paint and thinners (mean duration of exposure: 26 years). We used the Lanthony Desaturated Panel-D-15 (LDP-D15) to test color vision and calculated the color confusion index (CCI). The results were compared with reference values taken from the literature. Additionally the questionnaire Q18 for solvent related neurotoxic symptoms was applied and its results compared with the CCI. Painters between 25 to 55 years old had higher median CCI values than the respective age group of the references. No statistical significant association between CCI and the actual or chronic solvent exposure was found. The results of the Q18 did also not correlate significantly with the exposure indices. We recommend further studies to explore if the color confusion index is an appropriate indicator of early neurotoxic effects in painters. (+info)
Colour thresholds in dichromats and normals.
(67/392)
Studies indicate dichromats detect large, long duration spectral increments presented on bright white backgrounds with a blue-yellow colour opponent mechanism. Since opponent processes signal colour, we hypothesized that under these viewing conditions dichromats should perceive spectral increments as coloured at detection threshold. Psychophysical detection and colour discrimination thresholds were determined for normal and dichromatic humans. Test stimuli were 2 degrees, 200 ms increments presented upon a white, 1000 td, spatially coincident background. As expected, normal observers were able to discriminate between white and spectral flashes at intensities near detection threshold intensities. Dichromatic observers required suprathreshold ( approximately 0.30 log units) stimulus intensities to discriminate between the white and spectral flashes. The results do not support our hypothesis and alternative explanations for the elevated colour discrimination thresholds in dichromats are discussed. (+info)
Estimates of L:M cone ratio from ERG flicker photometry and genetics.
(68/392)
Estimates of L:M cone ratio for males with normal color vision were derived using the flicker-photometric electroretinogram (ERG). These were obtained by best fitting ERG spectral sensitivity functions to a weighted sum of long (L)- and middle (M)-wavelength-sensitive cone spectral absorption curves. Using the ERG, measurements can be made with extremely high precision, which leaves variation in the wavelength of maximal sensitivity (lambda(max)) of the cone photopigments as the major remaining source of inaccuracy in determining the ratio of cone contributions. Here that source of inaccuracy was largely eliminated through the use of individualized L-cone spectral absorption curves deduced from L-pigment gene sequences. The method was used on 62 normal males as part of an effort to obtain a true picture of how normal variations in L:M cone ratio are distributed. The percentage of L cones in the average eye was 65%L [where %L = 100 X L / (L+M)]. There were huge individual differences ranging from 28%-93%L, corresponding to more than a 30-fold range in L:M ratio (0.4-13). However, the most extreme values were relatively rare; 80% of the subjects fell within +/-15 %L of the mean, corresponding to a 4-fold range in L:M ratio (1-4). The method remedies major weaknesses inherent in earlier applications of flicker photometry to estimate cone ratio; however, it continues to depend on the assumption that the average L cone produces a response with an identical amplitude to that of the average M cone. A comparison of the ERG results with the distribution of cone ratios estimated from cone pigment messenger RNA in cadaver eyes indicates that the assumption generally holds true. However, there may be a small number of exceptions in which individuals have normally occurring (but relatively rare) amino acid substitutions in one of their pigments that significantly affect the physiology of the cone class containing that pigment, so as to reduce the amplitude of its contribution to the ERG. Consistent with this possibility, extreme cone contribution ratios were found to be associated with atypical L-pigment amino acid combinations. (+info)
Wavelength dependence of the optomotor response in zebrafish (Danio rerio).
(69/392)
The action spectrum of motion detection in zebrafish (Danio rerio) was measured using the optomotor response in the light adapted state. The function has a single maximum at 550-600 nm, and is similar to the spectral sensitivity function of the L-cone type in the mid and long wavelength range. At shorter wavelengths the values of three of the five fish tested are lower. As in goldfish [Vis. Res. 36 (1996) 4025], the result indicates a dominance of the L-cone type with an inhibitory influence of M- or S-cones. Experiments with a red/green striped cylinder showed that the optomotor response was at minimum whenever the L-cone type was not modulated by the moving pattern. This demonstrates that motion vision in zebrafish is "color blind", using mainly one of the four cone types probably involved in color vision. (+info)
Extent of foveal tritanopia in diabetes mellitus.
(70/392)
AIM: To use a colour matching technique to test the hypothesis that the foveal tritanopic zone is increased in size in diabetes mellitus. METHOD: A Wright tristimulus colorimeter was adapted for small field colour matching and colour matches were performed on bipartite fields in the range 12' to 60' of arc. The reference stimulus was 490 nm desaturated with 650 nm and the matching stimulus consisted of either two wavelengths (530 nm and 650 nm) or three (460 nm, 530 nm, and 650 nm). The size of the zone of foveal tritanopia was measured using two alternative forced choice presentations of dichromatic and trichromatic matches made by the observer for different field sizes. 21 diabetic and 12 controls performed the experiment. RESULTS: The results for the controls show a normal distribution, with a median foveal tritanopic zone of 18' of arc. The median for the diabetic patients was also 18' of arc, but the distribution showed a significant skew to the right. A non-parametric test shows a significant difference in comparison with the controls (p = 0.01), with several subjects having extensive zones of foveal tritanopia, reaching up to 1 degree. CONCLUSIONS: In the majority of diabetic subjects the extent of foveal tritanopia is normal; however, there is good evidence that in a small number of subjects the size of the zone is significantly increased. This indicates S-cone pathway damage that is sufficiently severe to lead to dichromatic colour vision in the fovea. (+info)
Assessment of colour vision as a screening test for sight threatening diabetic retinopathy before loss of vision.
(71/392)
AIM: To assess the effects of sight threatening diabetic retinopathy (STDR) on colour vision and to evaluate automated tritan contrast threshold (TCT) testing for STDR screening before significant visual loss. METHOD: Patients were recruited from a hospital based photographic screening clinic. All subjects underwent best corrected Snellen visual acuity (BCVA) and those with 20/30 vision or worse were excluded. Automated TCT was performed with a computer controlled, cathode ray tube based technique. The system produced a series of sinusoidal, standardised equiluminant chromatic gratings along a tritan confusion axis. Grading of diabetic retinopathy was made by one of the team of experienced ophthalmic registrars (SpR) using slit lamp biomicroscopy and a 78D lens; HbA(1c) and urine albumin were also tested. RESULTS: Patients with STDR had significantly worse TCT despite normal BCVA (p<0.0001). TCT yielded a sensitivity of 100% for detecting diabetic maculopathy and 94% for STDR with a specificity of 95%. Logistic regression analyses showed that TCT (p<0.001) and HbA(1c) (p<0.05) correlated significantly with the presence of STDR but duration of diabetes, urine albumin counts, and BCVA failed to show any significant correlation. No associations between TCT and duration of disease, TCT and HbA(1c), and TCT and urine albumin counts were found. CONCLUSION: Tritan colour vision deficiency was observed in patients with STDR despite their normal BCVA. These results indicate that automated TCT assessment is an effective and clinically viable technique for detecting STDR, particularly diabetic maculopathy, before visual loss. (+info)
Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.
(72/392)
Cone photoreceptor cyclic nucleotide-gated (CNG) channels are thought to form by assembly of two different subunit types, CNGA3 and CNGB3. Recently, mutations in the gene encoding the CNGB3 subunit have been linked to achromatopsia in humans. Here we describe the functional consequences of two achromatopsia-associated mutations in human CNGB3 (hCNGB3). Co-expression in Xenopus oocytes of human CNGA3 (hCNGA3) subunits with hCNGB3 subunits containing an achromatopsia-associated mutation in the S6 transmembrane domain (S435F) generated functional heteromeric channels that exhibited an increase in apparent affinity for both cAMP and cGMP compared with wild type heteromeric channels. In contrast, co-expression of a presumptive null mutation of hCNGB3 (T383f.s.Delta C) with hCNGA3 produced channels with properties indistinguishable from homomeric hCNGA3 channels. The effect of hCNGB3 S435F subunits on cell-surface expression of green fluorescent protein-tagged hCNGA3 subunits and of non-tagged hCNGA3 subunits on surface expression of green fluorescent protein-hCNGB3 S435F subunits were similar to those observed for wild type hCNGB3 subunits, suggesting that the mutation does not grossly disturb subunit assembly or plasma membrane targeting. The S435F mutation was also found to produce changes in the pore properties of the channel, including decreased single channel conductance and decreased sensitivity to block by l-cis-diltiazem. Overall, these results suggest that the functional properties of cone CNG channels may be altered in patients with the S435F mutation, providing evidence supporting the pathogenicity of this mutation in humans. Thus, achromatopsia may arise from a disturbance of cone CNG channel gating and permeation or from the absence of functional CNGB3 subunits. (+info)