Acquired anomalies of colour perception of central origin.
Explore the source record for details and available documents.
Adult↗
SEARCH · Search PubMed
Results for “Color Vision Defects”
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Disturbed perception of colours associated with localized cerebral lesions.
Explore the source record for details and available documents.
Adult↗
Behavioral deficits and cortical damage loci in cerebral achromatopsia.
Lesions to ventral occipital cortex can produce severe deficits in color vision, a syndrome known as cerebral achromatopsia. Because most studies examine relatively few cases, however, uncertainty remains about precisely which cortical loci, when damaged, produce the syndrome. In addition, the extents of the associated perceptual deficits remain unclear. To address these issues, we performed a meta-analysis of 92 case reports from the literature. The severity of color vision deficits of the cases varied greatly, although nearly all showed some deficit in color discrimination. Almost all cases tested also showed some loss of spatial vision. Lesion overlap analyses revealed a relatively small region of high overlap in ventral occipital cortex. The region of high overlap was located near areas identified by neuroimaging studies as important for color perception. For comparison, we performed a similar analysis of prosopagnosia, a disorder of face perception, and found several regions of high lesion overlap adjacent to the region associated with achromatopsia. Because the behavioral deficits in achromatopsia are often incomplete and never restricted to color vision, the region of high lesion overlap may be one critical stage within a stream of many visual areas that participate nonexclusively in color perception.
Cerebral Cortex↗
Linkage disequilibrium for two X-linked genes in Sardinia and its bearing on the statistical mapping of the human X chromosome.
The distribution of four X-linked mutants (G6PD, Deutan, Protan and Xg) among lowland and once highly malarial populations of Sardinia discloses a clear-cut example of linkage disequiligrium between two of them (G6PD and Protan). In the same populations the distribution of G6PD-deficiency versus colorblindness of the Deutan type and the Xg blood-group is not significantly different from that expected at equilibrium. These data suggest indirectly that the loci for G6PD and Protan may be nearer to one another than those for G6PD and Deutan.
Blood Group Antigens↗
The use of the Lanthony New Color Test in determining the effects of aging on color vision.
The primary purpose of this study was to collect data on the loss of color vision as a function of age. The Lanthony New Color Test (NCT), which measures acquired losses of color vision in the dimensions of hue, saturation, and brightness, was used to compile data on 68 subjects. The minimum number of subjects were 10 per decade from age 30 to 90 years. An age gradient of selective loss of discrimination of saturation beginning at age 50 was demonstrated, with rapid change noted after age 60. Similar findings were seen for hue but were not evident for brightness. By age 70, a neutral zone emerged at blue/purple, Munsell chroma level 2. The instrument was shown to be reliable and valid in comparison to the Farnsworth Dichotomous Panel D.15. It is seen that this information will provide a basis for planning safer, more functional environments for elderly people.
Adult↗
The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes.
We investigated the genotypic variation in 50 red-green color vision deficient males (27 deuteranopes and 23 protanopes) of middle European ancestry who possess multiple genes in the X-linked photopigment gene array. We have previously shown that only the first two genes of the array are expressed and contribute to the color vision phenotype. Therefore, the hypothesis is that the first two genes possessed by multigene-dichromats encode pigments of identical or nearly identical spectral sensitivity: one gene normal (R or G) and the other a hybrid (G/R or R/G). The spectral sensitivities of the encoded pigments were inferred from published in vitro and in vivo data. The color vision phenotype was assessed by standard anomaloscopy. Most genotypes (92%) included hybrid genes whose sequence and position and whose encoded pigment correlated exactly with the phenotype. However, one and possibly two of the protanopes had gene arrays consistent with protanomaly rather than protanopia, since two spectrally different pigments may be encoded by their arrays. Two of the deuteranopes had only R- and G-photopigment genes, without any detectable G/R-hybrid genes or any as-of-yet identified point mutation or coding/promoter sequence deletions. Further, an unexpectedly high number of multigene-deuteranopes (11%) had the C203R mutation in their most upstream G-pigment gene, suggesting a founder effect of middle European origin for this mutation. About half of the protanopes possessed an upstream R/G-hybrid gene with different exon 2 coding sequences than their downstream G-pigment gene(s), which is inconsistent with published data implying that a single amino acid substitution in exon 2 can confer red-green color discrimination capacity on multigene-protans by altering the optical density of the cones.
Color Perception↗
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.
Cone degeneration (cd ) is an autosomal recessive canine disease that occurs naturally in the Alaskan Malamute and German Shorthaired Pointer breeds. It is phenotypically similar to human achromatopsia, a heterogeneous autosomal recessive disorder associated with three distinct loci. Both the canine disease and its human counterparts are characterized by day-blindness and absence of retinal cone function in adults. We report linkage of the canine cd locus to marker C29.002 on canine chromosome 29 at recombination fraction theta = 0.0 with a maximum LOD score of 24.68 in a series of informative outbred pedigrees derived from cd-affected Alaskan Malamutes. Conserved gene order between CFA29 and the long arm of human chromosome 8 argued for homology between the cd locus and the human achromatopsia locus, ACHM3, at 8q21-22. The canine homolog of the cyclic nucleotide-gated channel beta-subunit gene (CNGB3), responsible for the human ACHM3 disease phenotype, was mapped within the zero-recombination interval for the cd locus. A deletion removing all exons of canine CNGB3 was identified in cd-affected Alaskan Malamute-derived dogs. A missense mutation in exon 6 (D262N, nucleotide 784) within a conserved region of the same gene was detected in German Shorthaired Pointers affected with an allelic disorder. Identification of these canine disorders as homologs of human ACHM3 underscores the power of recent developments in canine genomics, and provides a valuable system for exploring disease mechanisms and evaluating potential therapeutic measures in disorders of cone photoreceptors.
Animals↗
Mutations in the RPGR gene cause X-linked cone dystrophy.
X-linked cone dystrophy is a type of hereditary retinal degeneration characterized by a progressive dysfunction of the day vision or photopic (cone) system with preservation of night vision or scotopic (rod) function. The disease presents with a triad of photophobia, loss of color vision and reduced central vision. This phenotype is distinct from retinitis pigmentosa (RP) in which there are prominent night and peripheral vision disturbances. X-linked cone dystrophy is a genetically heterogeneous disorder, with linkage to loci on Xp11.4--Xp21.1 (COD1, OMIM 304020) and Xq27 (COD2, OMIM 303800). COD1 maps to a region that harbors the RPGR gene, mutations in which account for >70% of patients with X-linked RP. The majority of these mutations reside in one purine-rich exon, ORF15, encoding 567 amino acids with a repetitive domain rich in glutamic acid residues. We mapped two families with X-linked cone dystrophy to the COD1 locus and identified two distinct mutations in ORF15 in the RPGR gene (ORF15+1343_1344delGG and ORF15+694_708del15) leading to a frame-shift and premature termination of translation in one case and a deletion of five amino acids in another. Consistent with expression of RPGR in rods and cones, our results show that mutations in RPGR, in addition to X-linked RP, can also cause cone-specific degeneration.
Amino Acid Sequence↗
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.
Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inability to distinguish colors, impaired visual acuity, nystagmus and photophobia. A genome-wide search for linkage was performed using an inbred Jewish kindred from Iran. To facilitate the genome-wide search, we utilized a DNA pooling strategy which takes advantage of the likelihood that the disease in this inbred kindred is inherited by all affected individuals from a common founder. Equal molar amounts of DNA from all affected individuals were pooled and used as the PCR template for short tandem repeat polymorphic markers (STRPs). Pooled DNA from unaffected members of the kindred was used as a control. A reduction in the number of alleles in the affected versus control pool was observed at several loci. Upon genotyping of individual family members, significant linkage was established between the disease phenotype and markers localized on chromosome 2. The highest LOD score observed was 5.4 (theta = 0). When four additional small unrelated families were genotyped, the combined peak LOD score was 8.2. Analysis of recombinant chromosomes revealed that the disease gene lies within a 30 cM interval which spans the centromere. Additional fine-mapping studies identified a region of homozygosity in all affected individuals, narrowing the region to 14 cM. A candidate gene for achromatopsia was excluded from this disease interval by radiation hybrid mapping. Linkage of achromatopsia to chromosome 2 is an essential first step in the identification of the disease-causing gene.
Chromosome Mapping↗
Visual pigment gene structure and expression in human retinae.
We determined the genotypes of the X-chromosome-linked red/green color vision genes by a novel PCR/SSCP-based method and assessed expression by mRNA analysis in retinae of 51 unselected post mortem eye specimens from Caucasian males of unknown color vision status. All individuals had a single red (long-wave) pigment gene and one or more (an average of two) green (middle-wave) pigment genes. Four males had 5'green-red3' hybrid genes in addition to normal red and green pigment genes. These findings are consistent with earlier studies on human visual pigment gene structure using Southern blotting and with a recent study using pulsed-field electrophoresis. We interpret claims of much larger numbers of red, green and green-red hybrid genes to be technical artifacts. The ratio of expressed red to green pigment retinal mRNA varied widely (1-10 with a mode of 4) and was not correlated with that of red to green pigment genes. In one individual with a green-red hybrid gene in addition to normal red and green pigment genes, the normal red pigment gene and the hybrid gene were both expressed, but the normal green gene was not. This person presumably had deuteranomalous color vision. Two with green-red hybrid genes expressed the normal red and green pigment genes, but not the hybrid genes. These two individuals presumably had normal color vision. We interpret the failure to express their green-red hybrid genes to be caused by their location at a more distal position in the visual pigment gene array.
Color Vision Defects↗
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
Achromatopsia is an autosomal recessive disorder featuring total colour blindness, photophobia, reduced visual acuity and nystagmus. While mutations in the CNGA3 gene on chromosome 2q11 are responsible for achromatopsia in a subset of patients, previous linkage studies have localized another achromatopsia locus, ACHM3, on chromosome 8q21. Using achromatopsia families in which CNGA3 mutations have been excluded, we refined the ACHM3 locus to a 3.7 cM region enclosed by markers D8S1838 and D8S273. Two yeast artificial chromosome (YAC) contigs covering nearly the entire ACHM3 interval were constructed. Database searches with YAC content sequences identified two overlapping high throughput genomic sequencing phase (HTGS) entries which contained sequences homologous to the murine cng6 gene encoding the putative beta-subunit of the cone photoreceptor cGMP-gated channel. Using RT-PCR and RACE, we identified and cloned the human cDNA homologue, designated CNGB3, which encodes an 809 amino acid polypeptide. Northern blot analysis revealed a major transcript of approximately 4.4 kb specifically expressed in the retina. The human CNGB3 gene consists of 18 exons distributed over approximately 200 kb of genomic sequence. Analysis of the CNGB3 gene in achromats revealed six different mutations including a missense mutation (S435F), two stop codon mutations (R203X and E336X), a 1 bp and an 8 bp deletion (1148delC and 819-826del) and a putative splice site mutation of intron 13. The 1148delC mutation was identified recurrently in several families, and in total was present on 11 of 22 disease chromosomes segregating in our families.
Amino Acid Sequence↗
Statistical and molecular analyses of evolutionary significance of red-green color vision and color blindness in vertebrates.
Red-green color vision is strongly suspected to enhance the survival of its possessors. Despite being red-green color blind, however, many species have successfully competed in nature, which brings into question the evolutionary advantage of achieving red-green color vision. Here, we propose a new method of identifying positive selection at individual amino acid sites with the premise that if positive Darwinian selection has driven the evolution of the protein under consideration, then it should be found mostly at the branches in the phylogenetic tree where its function had changed. The statistical and molecular methods have been applied to 29 visual pigments with the wavelengths of maximal absorption at approximately 510-540 nm (green- or middle wavelength-sensitive [MWS] pigments) and at approximately 560 nm (red- or long wavelength-sensitive [LWS] pigments), which are sampled from a diverse range of vertebrate species. The results show that the MWS pigments are positively selected through amino acid replacements S180A, Y277F, and T285A and that the LWS pigments have been subjected to strong evolutionary conservation. The fact that these positively selected M/LWS pigments are found not only in animals with red-green color vision but also in those with red-green color blindness strongly suggests that both red-green color vision and color blindness have undergone adaptive evolution independently in different species.
Animals↗
Localization of hemiachromatopsia.
Impaired color perception with relative preservation of form vision (achromatopsia) caused by cerebral lesions was first described over a century ago. However, for many years some researchers questioned the existence of an area of cerebral cortex apart from the primary visual cortex specialized in color processing. The development of sophisticated structural and functional neuroimaging techniques has allowed verification of the cortical structures important in color perception. We describe a case of a patient with impaired color perception in one hemifield of vision (hemiachromatopsia) and compare the localization of the lesion with previous cases described in the literature. These cases show that lesions of the ventromedial occipital cortex can impair color perception and leave form vision intact.
Aged↗
Pre-employment colour vision testing.
Male candidates (1020) for employment in occupations that required discrimination of colour were subjected to the Ishihara test and two trade tests of colour perception, the Giles Archer Lantern test and the Electricity Supply Industry (ESI) wire test. One hundred candidates failed the Ishihara test, 61 of the 100 passed both trade tests; 16 of the 100 passed the wire test alone and 7 of the 100 passed the lantern test alone but only 16 failed all 3 tests. Seventy-seven of the 84 who passed some part of their colour perception assessment were offered employment appropriate to their colour vision ability. Eleven of the 16 who passed the wire test alone and 3 of the 6 who passed the lantern test alone successfully entered employment. The Ishihara test, whilst being a useful screening test, is not sufficient on its own as a test of suitability for employment; one or more trade tests should be administered before rejecting candidates who fail it.
Aircraft↗
Pre-employment colour vision testing.
Explore the source record for details and available documents.
Adult↗
Pre-employment colour vision testing.
Explore the source record for details and available documents.
Aerospace Medicine↗
A suitable study to evaluate colour vision requirements for firefighters?
A recent paper by Rees (Occup. Med. 1994; 44: 253-256) has proposed a study to evaluate the performance of both clinical and trade tests on firefighter recruits. The paper suggests that a new trade test using painted gas cylinders and/or the BOC cylinder identification chart may be appropriate in the selection of firefighter recruits. Evaluation of pass/fail standards on these tests would be achieved by comparing the results with those obtained from the Ishihara test, the City University test and the Holmes-Wright lantern test. In this paper, we argue that the proposed battery of tests does not allow an accurate evaluation of the new trade tests. Indeed,the new trade tests are likely to result in a false sense of obvious fairness' that ultimately be an unsound means of assessing the colour vision requirements of firefighter recruits.
Color Perception Tests↗
Assessment of colour vision impairment in male workers exposed to toluene generally above occupational exposure limits.
We investigated colour vision impairment in 45 male workers occupationally exposed to toluene (mean value of toluene concentration in ambient air = 119.96 ppm) and in 53 controls. Colour vision was evaluated by Lanthony-D-15 desaturated test and expressed as Age and Alcohol Intake Adjusted Colour Confusion Score (AACDS) or types of dyschromatopsia. Exposure was evaluated by measurement of toluene concentration in ambient air and blood, and hippuric acid and orthocresol determined in urine after the workshift. A statistically significant higher AACDS value was established in the exposed subjects compared to the controls (p < 0.0001). There was no significant difference between AACDS values on Wednesday morning compared to Monday morning. In the exposed group AACDS significantly correlated with the concentration of toluene in ambient air, concentration of toluene in blood and the concentration of hippuric acid in urine after the workshift (all p < 0.0001). Dyschromatopsias were detected in both groups, although no significant difference between groups was established. In the exposed group concentration of toluene in ambient air, alcohol intake and age explained 35.1%, concentration of toluene in blood, age and alcohol intake explained 19.9%, and concentration of hippuric acid in urine and age explained 19.2% of the variation in type III dyschromatopsia. Concentration of toluene in ambient air and age explained 28.3% of the variation in total dyschromatopsia, and concentration of hippuric acid and age explained 13.8%. In the control group, age and alcohol intake explained 19.6% of the variation in type III dyschromatopsia. In exposed workers a significant difference was found in the AACDS value compared to controls. However, no significant difference was found in the prevalence of colour vision loss in the yellow-blue and/or red-green axis. Based on the results of this study the authors conclude that the effect of toluene on colour vision can be chronic and that the possible reparation period in colour vision impairment is longer than 64 hours.
Adult↗