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.

SourceResearch connectionFrom yearThrough year

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 919 records · Page 51Linked to original sources

PubMed1994

Vision evaluation in people with Down's syndrome.

We tested the colour vision of 72 people with Down's syndrome using the Ishihara test and an anomaloscope. We found that 13 of the subjects, 6 males and 7 females, had defective colour vision according to Pickford's classification. In monocular vision 10 eyes were protan (five simple, three extreme and two deviant), one eye was simple deuteranomalous and the remaining eyes were normal: in binocular vision four of the subjects were protan (two simple and two deviant), two subjects were deutan (one simple and one deviant) and the rest were normal. Many of our subjects had lens opacities, strabismus, nystagmus, hypermetropia, high myopia and astigmatism, confirming literature reports. The contrast sensitivity function measured with the VCTS test showed a considerable loss of low-frequency sensitivity in our subjects compared to a normal population, which was more marked in the more severely impaired subjects.

Adolescent↗

PubMed1988

Identification of polarity in FM 100-Hue plots: a comparison of methods.

Several methods which have been proposed to aid the identification of polarity in Farnsworth-Munsell (FM) 100-Hue test plots are described. The assumptions which underlie one type of method are discussed and problems identified. Two methods are taken as representative of the two types of analysis and their performance compared on plots from congenital and acquired color defectives. The key difference between the two methods and the types of method which they represent lies in the imposition of symmetry on the plot. From the performance of 200 diabetic subjects, the problems created by the presence of monopolar plots, plots with unequal magnitudes of errors in the two poles of bipolar plots, and plots in which the two poles are not diametrically opposite are highlighted. It is concluded that the simpler type of analysis is sufficient and retains more information.

Color Perception↗

PubMed1991

Electrophysiology and colour perimetry in dominant infantile optic atrophy.

A typical finding in dominant infantile optic atrophy (DIOA) is the variation of the phenotypic expression of the DIOA gene even within one family. It is of special interest for genetic consultation to evaluate an examination method for detecting subclinically involved patients. Seven patients of two families were examined. Three of them had the typical symptoms of DIOA: reduced visual acuity, tritan defect, temporal pallor of both optic discs, and a relative central scotoma for white test spots. In visual evoked cortical potentials (VECP) the amplitudes were reduced, and in one patient the latencies were slightly delayed and two patients considerably so. The amplitude of the negative component of the PERG was markedly reduced, while the positive component was normal. In the remaining four family members normal retinal and cortical responses were recorded under standard conditions and visual fields and colour vision (FM 100 hue) were also normal. However, static perimetry with blue test spots showed in two family members enlarged central scotomas, thus proving that they had subclinical DIOA.

Adolescent↗

PubMed1999

Measuring colour rivalry suppression in amblyopia.

AIMS: To determine if the colour rivalry suppression is an index of the visual impairment in amblyopia and if the stereopsis and fusion evaluator (SAFE) instrument is a reliable indicator of the difference in visual input from the two eyes. METHODS: To test the accuracy of the SAFE instrument for measuring the visual input from the two eyes, colour rivalry suppression was measured in six normal subjects. A test neutral density filter (NDF) was placed before one eye to induce a temporary relative afferent defect and the subject selected the NDF before the fellow eye to neutralise the test NDF. In a non-paediatric private practice, 24 consecutive patients diagnosed with unilateral amblyopia were tested with the SAFE. Of the 24 amblyopes, 14 qualified for the study because they were able to fuse images and had no comorbid disease. The relation between depth of colour rivalry suppression, stereoacuity, and interocular difference in logMAR acuity was analysed. RESULTS: In normal subjects, the SAFE instrument reversed temporary defects of 0.3 to 1. 8 log units to within 0.6 log units. In amblyopes, the NDF to reverse colour rivalry suppression was positively related to interocular difference in logMAR acuity (beta=1.21, p<0.0001), and negatively related to stereoacuity (beta=-0.16, p=0.019). The interocular difference in logMAR acuity was negatively related to stereoacuity (beta=-0.13, p=0.009). CONCLUSIONS: Colour rivalry suppression as measured with the SAFE was found to agree closely with the degree of visual acuity impairment in non-paediatric patients with amblyopia.

Adolescent↗

PubMed2004

Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).

PURPOSE: To describe the clinical characteristics of a Japanese male patient with enhanced S-cone syndrome (ESCS) and investigate the existence of mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor. METHODS: Fundus examinations, fluorescein angiography, colour vision tests, spectral sensitivity, and full-field and spectral electroretinography were performed. Mutation screening of the NR2E3 gene was performed with polymerase chain reaction (PCR) amplification and direct sequencing. RESULTS: We identified a novel homozygous mutation (c.1048C > T), that converts glutamine (CAA) to a termination codon (TAA) at amino acid position 350. The subject's unaffected parents were heterozygous for the mutation, consistent with autosomal recessive transmission. The electroretinographic findings revealed that the patient had neither rod nor 30-Hz flicker responses but did have cone responses with large a-wave and low b-wave amplitudes, similar to the rod-plus-cone responses, and also substantial short wavelength-sensitive (S) cone and extremely diminished long/middle wavelength-sensitive (L/M) cone responses. In the right eye, spectral sensitivity in the fovea revealed both functional S-cone and remarkably reduced L- and M-cone sensitivities, which was compatible with the decreased visual acuity (VA) and red/green colour vision defects noted in this eye. In contrast, the patient had good VA and normal red/green colour vision in the left eye. CONCLUSION: The nonsense mutation results in a truncated NR2E3 protein lacking 61 amino acids within the ligand-binding domain (LBD) that consists of 190 amino acids of the C-terminus end. Therefore, null function of the LBD is likely to cause ESCS in the patient. The clinical findings for this patient suggest that his left eye, with its functional L/M- and S-cones, was at an earlier stage of the syndrome than his right eye.

Adolescent↗

PubMed2005

One of Australia's greatest cricketers was a protanope: a genetic detective story solved with the help of Schmidt's sign.

Abnormal colour vision is under-represented among first class cricketers and interviews with cricketers, all of whom had a mild colour vision defect, suggest there may be times when they lose sight of the red cricket ball against green surrounds. It is possible that severe abnormal colour vision precludes playing cricket at its highest competitive level. It is known that Bill Ponsford, who played Test cricket from 1924 to 1934 and was one of Australia's greatest batsmen, had abnormal colour vision. We have diagnosed him to be a protanope by tracing the abnormal colour vision exhibited by some of his descendents. We used Schmidt's sign using the Medmont C100 colour vision test to identify carriers of the protan gene to trace the protanopic gene to Ponsford with greater certainty. That such an accomplished batsman and highly regarded out-fielder should have a severe colour vision deficiency suggests that abnormal colour vision might not be, or at least need not be, a handicap to playing cricket at the most competitive levels.

Australia↗

PubMed2003

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

AIM: To describe the phenotype of a three generation consanguineous Pakistani family containing six individuals with autosomal recessive cone dystrophy caused by mutation in GNAT2. METHODS: Five of the six affected individuals underwent an ophthalmological examination, electrodiagnostic testing, fundus photography, autofluorescence imaging, and detailed psychophysical testing. RESULTS: All five examined patients had a history of nystagmus from infancy, photophobia, defective colour vision, and poor visual acuity. The nystagmus in three of the individuals had lessened with time. Fundus examination revealed an abnormal foveal appearance, without frank atrophy or pigmentation. Electroretinography (ERG) revealed absent ISCEV cone flicker ERGs with some preservation of responses to short wavelength stimulation. Rod ERGs showed no definite abnormality, but maximal (mixed rod-cone) response a-wave amplitudes were mildly subnormal. Rudimentary residual colour vision was detected in three individuals. There is clinical evidence of progressive visual acuity reduction in two older individuals. CONCLUSION: Mutation in the alpha-subunit of cone specific transducin (GNAT2) is characterised by an infantile onset cone dystrophy. Some affected individuals may show deterioration of visual acuity with time.

Adult↗

PubMed1993

Screening for congenital colour vision defects. A comparison between the Ohkuma and Ishihara plates.

A prospective comparison between the Ohkuma and Ishihara pseudoisochromatic (PIC) plates was carried out in a group of 400 patients attending a general ophthalmology practice. The sensitivity of the Ohkuma test was compared to the Ishihara test, and the specificity of both was determined by reference to anomaloscopy as a gold standard. Both tests correctly identified the same group of 24 patients as having a red/green confusion axis, and the Ohkuma test was equally as sensitive as the Ishihara. The grading plates in both tests are unreliable, but the Ohkuma test is quicker, easier to administer, gives less ambiguous responses and has a clearer cut-off score for abnormality. On the basis of this experience the Ohkuma test is recommended as more appropriate for routine colour vision screening than either the 24 or 38 plate Ishihara tests.

Adolescent↗

PubMed1993

Negative-type electroretinogram from cisplatin toxicity.

A 68-year-old woman with ovarian cancer suffered a loss of visual acuity and color perception after inadvertent overdosage with the antineoplastic agent cisplatin. Her acuity returned to normal but a tritan color defect persisted more than a year later. Her electroretinogram was stable between 7 weeks and 15 months after cisplatin administration, with a negative-type scotopic response, but also reduced cone b waves and a loss of some scotopic oscillatory potentials. With light stimuli between 10 and 100 ms in duration, the photopic on-responses were markedly reduced while the off-responses were normal or close to it. This case suggests that cisplatin may selectively injure on-pathways in the retina and indicates the need to expand the list of disorders that may cause a negative-type electroretinogram.

Aged↗

PubMed1986

The electroretinographic characteristics of congenital tritan defects.

Electroretinographic studies were performed in three congenital tritanopic subjects in a single pedigree. The b-waves were recorded in the presence of white and intense yellow adaptation in response to 16 monochromatic light stimuli. Compared with the response of normal subjects, a marked reduction or a lack of the blue cone responses was clearly shown in the spectral response patterns of tritanopes. Electroretinograms elicited by strong white stimulation or xenon flashes showed negative responses (a-waves larger than b-waves) with normal rod function in each tritanopic subject. This finding points to abnormalities of red cone and green cone function as well in tritanopes.

Color↗

PubMed1991

Macular colour contrast sensitivity in ocular hypertension and glaucoma: evidence for two types of defect.

Colour contrast sensitivity (CCS) of a large cohort of glaucomatous patients, ocular hypertensive patients (OH), and normal persons was measured at six-month intervals during a two-year period. The OHs were graded into high, medium, and low risk groups. 69% of glaucomatous patients and 32% of all OHs had CCS thresholds greater than the mean plus 2 SDs of the controls. Satisfactory specificity and sensitivity could not be obtained by adjusting the criterion of threshold. In abnormal eyes, progressive small increases of threshold occurred during the study, but glaucomatous eyes with normal thresholds on the first visit retained normal thresholds in the subsequent visits. Although our system is very sensitive and precise, the proportion of abnormalities detected is no greater than with other techniques. In some glaucomatous patients there is a true preservation of colour vision which does not merely reflect the limitations of the test employed.

Color Perception↗

PubMed2005

Silent substitution S-cone electroretinogram in subjects with diabetes mellitus.

A defect in the blue sensitive mechanism has been reported in certain ocular and systemic diseases. For example, tritanopic colour vision defects and changes to the S-cone electroretinogram (ERG) have been demonstrated in glaucoma and diabetes mellitus. Electrophysiological methods of eliciting the S-cone ERG, however, often result in considerable L- and M-cone intrusion. We report the findings of a study employing the silent substitution S-cone ERG technique, which is thought to represent an almost pure S-cone signal, and the L'Anthony desaturated D15 colour vision test in subjects with Type 1 or 2 diabetes mellitus with no or minimal background retinopathy. The results of this study show a significantly increased S-cone ERG b-wave implicit time and significantly worse colour vision in those with background retinopathy compared with those with no diabetic retinopathy. This suggests that S-cone pathway dysfunction may be responsible for the deterioration in colour vision found in diabetes mellitus.

Adolescent↗

PubMed1992

[A case report of cerebral achromatopsia with bilateral occipital lesion].

An 80-year-old right-handed man suddenly became impossible to recognize any color 7 years prior to admission. He complained that everything looked like of the same color, monochromatic. On admission, he could not discriminate any color and any familial face. Left homonymous hemianopsia associated with right lower partial visual filed defect was observed, but visual acuity of both eyes was well preserved. Visual-visual color tasks (Ishihara, matching, Hue test, Panel-D15) disclosed the disturbances in color perception. However, he could roughly distinguished red or brown from the other colors. The color test was also impaired regarding the visual-verbal color tasks (naming, pointing). However, verbal description of the color concept, which was shown by the verbal-verbal color tasks, was well preserved. In addition, we observed left hemispatial neglect, disturbance of face recognition and topographical disorientation. MRI revealed old hemorrhagic infarcts in the bilateral occipital and temporal lobes, including the bilateral lateral and medial occipito-temporal gyri. Disturbance of color recognition in this case was diagnosed as cerebral achromatopsia on the basis of clinical characteristics and MRI findings. This is the first case of cerebral achromatopsia of which lesions were detected by MRI in detail.

Aged↗

PubMed1990

The dyschromatopsia of optic neuritis is determined in part by the foveal/perifoveal distribution of visual field damage.

Most hypotheses of acquired dyschromatopsia invoke the mechanism of selective damage to specific components of the afferent visual system to explain the predominance of red-green and blue-yellow hue-discrimination defects found in neural and retinal disorders, respectively. However, this pattern of hue-discrimination disturbance in ocular disease may vary. There are frequent exceptions which are inadequately explained by existing hypotheses. In an effort to explain the pattern and pathogenesis of acquired dyschromatopsias better, the authors examined patients with nonproliferative diabetic retinopathy (DR) and late-stage retrobulbar neuritis (RBN) using age-corrected Farnsworth-Munsell 100-hue testing and threshold static perimetry. As expected, most DR eyes showed some degree of relative blue-yellow dyschromatopsia (89%) with few showing a greater weighting towards red-green dyschromatopsia (11%). However, an approximately equal number of RBN eyes had a relative blue-yellow (48%) versus red-green dyschromatopsia (52%). For RBN, the authors found a strong association between the spatial distribution of field defect and the type of relative hue-discrimination disturbance. Eyes with greater field depression at the fovea relative to the perifovea showed a relative preponderance of red-green dyschromatopsia (68%) as opposed to blue-yellow dyschromatopsia (32%), whereas eyes with greater relative perifoveal impairment showed a relative preponderance of blue-yellow dyschromatopsia (100%). This relationship between the relative spatial distribution of visual field damage and the relative hue-discrimination deficit in RBN was statistically significant (P = 0.002). Such an association was not found for DR.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed1999

Flicker ERG responses to stimuli parametrically modulated in color space.

PURPOSE: To develop methods for recording human electroretinogram (ERG) responses to stimuli that modulate different classes of cones in various ratios, to draw inferences about the combination of cone signal in early retinal processing. METHODS: Subjects viewed large-field temporal modulations presented on a computer-controlled color monitor. A flicker photometric paradigm was used to equate the ERG response elicited by interleaved reference and test modulations. Test modulations were chosen to stimulate the L- and M-cones in various ratios. Results were obtained from color-normal subjects, dichromats, and an anomalous trichromat. RESULTS: Reliable signals were obtained from all subjects to both L- and M-cone-isolating modulations and to intermediate modulations. Signals from color-defective subjects were predominantly determined by the modulation seen by only one cone type, whereas signals from color-normal subjects were sensitive to both L- and M-cone modulations. For most color-normal subjects, the recorded signal was a linear function of the contrasts seen by the L- and M-cones. There was individual variability in how strongly each cone type contributed to the overall signal. CONCLUSIONS: It is straightforward to record signals to color modulations presented on a CRT by using the flicker photometric ERG. For most observers, signals from L- and M-cones combine linearly. The relative contribution of the two cone classes varies across observers, probably because of individual differences in the relative numbers of L- and M-cones.

Adult↗

PubMed1977

Evaluation of single-pigment shift model of anomalous trichromacy.

The spectral sensitivity of the visual photopigments, the interobserver variability in color judgments, and the spectral locus of unique yellow provide three major problems for accounts of X-chromosomal-linked anomalous trichromacy. According to the single-pigment hypothesis, the primary defect in anomalous trichromacy is a wavelength shift in the peak sensitivity of one of the three visual photopigments. We show that this shift results in reduction of the anomalous trichromat's r-g opponent chromatic channel. The distribution of response variability in Rayleigh equation match widths due to factors other than the spectral characteristics of the photopigments is similar in normal and anomalous trichromats. When normal and anomalous trichromats make hue estimations of sets of stimuli designed to contain similar chromatic information, their judgments show similar variability. Calculation of the r-g opponent chromatic channel can provide correct predictions of the spectral loci for unique yellow for anomalous trichromats.

Animals↗

PubMed1983

Who fails lantern tests?

A battery of clinical colour vision tests was given to a group of 100 observers with abnormal colour vision who were also tested on the Farnsworth lantern and the Holmes-Wright lanterns types A and B. It was found that clinical colour vision tests are imperfect predictors of lantern test performance. However, observers classified as having a 'severe' colour vision defect were found to fail the lantern tests but only one half to two-thirds of those who fail the lantern tests can be identified in this way. It is not possible to identify with certainty any of the people likely to pass the lantern tests: about one-third to two-thirds of observers classified as being mildly affected fail the lantern tests. The Farnsworth D-15 and City University tests were found to be the best predictors of lantern test performance but other tests such as the Nagel anomaloscope, the H-16, L'Anthony's desaturated test can also be used. The lack of a strong correlation between clinical tests and the recognition of the small coloured stimuli presented by the lantern tests suggests that clinical tests do not test the same aspect of colour vision that is important to the recognition of signal lights. For this reason lantern tests should be retained for occupational testing of colour vision.

Adaptation, Ocular↗

PubMed1995

Does occupational exposure to argon laser radiation decrease colour contrast sensitivity in UK ophthalmologists?

The objects of the study were to determine: (1) whether United Kingdom ophthalmologists who used argon lasers had the elevation of colour-contrast thresholds previously discovered and (2) whether other users of argon lasers showed any unusual loss of colour vision. A total of 1072 UK ophthalmologists filled in a questionnaire about their professional use of lasers, the length of time spent operating, and their out-of-doors activities. Their colour vision was then tested by a new sensitive system, and if any abnormality was detected, a clinical eye examination was performed. The results were as follows: (1) Colour vision testing was shown to be reliable. Any self-selection bias was excluded. Test-retest variability was small. Normal results did not change during the survey. (2) A number of men with high red-green thresholds were discovered. Some were aware of their congenital insensitivity. The frequency of all such defects was less than the known incidence of congenital colour deficiency in the male population. (3) Additionally a number of high tritan (blue-yellow) thresholds were encountered, some associated with reported diabetes and hypertension. In other cases of this type, undetected or unacknowledged systemic disease may be present. (4) After making allowance for all these incidental causes of loss of colour vision, and for the effect of age on colour vision (which is very small) only four of the sample were > 2 SD above normal. (5) However, the average blue-yellow thresholds of ophthalmologists were slightly and highly significantly raised compared with normal, in the first year of the survey. During the second and third years, the mean thresholds declined to normal. Similar but less significant findings were found for protan thresholds. It is concluded that the enhanced safety precautions recently introduced are associated with a recovery of colour vision in this population, demonstrating that any changes to individuals were reversible. Colour vision screening has proved able to detect mild ocular abnormalities due to systemic and congenital disease.

Adult↗