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Results for “Color Vision Defects”

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PubMed1988

Frequent alterations of visual pigment genes in adrenoleukodystrophy.

Both adrenoleukodystrophy (ALD) and red/green color blindness have been mapped to the distal long arm of the human X chromosome (Xq28). Color-vision defects are frequently associated with ALD, and study of the red and green visual pigment genes in eight ALD kindreds has shown frequent structural changes including deletions and possible intragenic recombinations. Such changes may reflect chromosomal events underlying both ALD and the associated visual defects and should help define both the structural gene responsible for ALD and physical genetic relationships in the Xq28 region.

Adrenoleukodystrophy↗

PubMed1985

Electrophysiological estimation of the function of different retinal zones in normal eyes and in retinal degenerations.

By means of electroretinographical responses from different areas of the retina (zonular ERGs) both healthy people and patients with central and peripheral retinal degenerations were examined. Responses were registered from three retinal areas (zones): central (red, green, and blue stimuli, 10 degrees in diameter, during adaptation of 20 lux); paramacular (a dim, blue, ringlike stimulus, 15 degrees inner and 50 degrees outer diameter, presented at the beginning of dark adaptation) and peripheral (very dim, blue ring stimulus of a 50 degree inner and 110 degrees outer diameter, after 3 min of dark adaptation). The data obtained by this method of stimulation give information about the function of stimulated retinal areas and provide new criteria for the function of the spectrally different photoreceptors responsible for intact color vision. Examples are presented that reveal the value of this method for the detection of congenital color vision defects and for the classification of different types of retinal degeneration. This method is shown to be highly effective and has many advantages over the common routine Ganzfeld ERG technique, especially in cases of unusual retinal degenerations.

Color↗

PubMed1992

Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.

Two female identical twins who were clinically normal were obligatory heterozygotes for X-linked deuteranomaly associated with a green-red fusion gene derived from their deuteranomalous father. On anomaloscopy, one of the twins was phenotypically deuteranomalous while the other had normal color vision. The color vision-defective twin had two sons with normal color vision and one deuteranomalous son. X-inactivation analysis was done with the highly informative probe M27 beta. This probe detects a locus (DXS255) which contains a VNTR and which is somewhat differentially methylated on the active and inactive X chromosomes. In skin cells of the color vision-defective twin, almost all paternal X chromosomes with the abnormal color-vision genes were active, thereby explaining her color-vision defect. In contrast, a different pattern was observed in skin cells from the woman with normal color vision; her maternal X chromosome was mostly active. However, in blood lymphocytes, both twins showed identical patterns with mixtures of inactivated maternal and paternal X chromosomes. Deuteranomaly in one of the twins is explained by extremely skewed X inactivation, as shown in skin cells. Failure to find this skewed pattern in blood cells is explained by the sharing of fetal circulation and exchange of hematopoietic precursor cells between twins. These data give evidence for X inactivation of the color-vision locus and add another MZ twin pair with markedly different X-inactivation patterns for X-linked traits.

Chromosome Mapping↗

PubMed1992

Study of color vision in fragile X syndrome.

Various theories have been postulated to account for the unusual inheritance pattern observed in the fragile X syndrome. The recent finding of a secondary amplification of the fragile X mutation in the offspring of carrier females [Oberle et al., 1991; Yu et al., 1991] is consistent with a maternal imprinting process. Laird [1987] has proposed that the fragile X mutation blocks complete reactivation of a previously inactivated fragile X chromosome. We have tested whether or not such a localized block extends as far distal as the red/green color-vision complex at Xq28. We found no evidence of color-vision defects among 25 male subjects with the fragile X syndrome. A fragile X positive woman also had normal color vision, despite being an obligate carrier of her father's gene for red/green color blindness. We conclude that the fragile X gene does not affect the function of neighboring color-vision genes, nor does it affect their ability to compensate adequately for inherited color deficiency on the homologous X chromosome in females.

Adolescent↗

PubMed1985

Differentiation between recently resolved optic neuritis and central serous retinopathy. Use of tests of visual function.

A test battery was performed on 13 patients with resolved central serous retinopathy and on 13 patients with resolved optic neuritis to see whether the tests would help to distinguish between the two conditions. We found that the most useful discriminators were the relative afferent pupillary defect, followed by the visual evoked potential latency and the critical flicker frequency. The total error score on the Farnsworth-Munsell 100-Hue Test and the nature of the color vision defect were not helpful in separating the two diseases.

Adult↗

PubMed1986

Analysis of human color mechanisms using sinusoidal spectral power distributions.

We examined the effects of probing human color mechanisms using sinusoidal spectral power distributions (SPD's) varying in frequency (i.e., from 0.1 to 5.0 cycles/300 nm for a constant starting phase) and phase (i.e., from 0 to 360 deg for a fixed frequency of 1 cycle/300 nm) through computer simulation using several color models. Predicted modulation sensitivity functions (MSF's) in spectral frequency and phase differ among the models and indicate that measurements of the minimum amplitudes necessary to detect sinusoidal SPD's would be useful for distinguishing among theories of color vision. MSF's obtained from similar analyses of dichromats' color mechanisms reveal characteristic patterns of modulation sensitivities and suggest that such measures could serve to distinguish type and degree of color-vision defect. Some implications based on sinusoidal approximations to illuminant and reflectance spectra are discussed along with more general considerations regarding sine-wave SPD's as a probe for mechanisms of color vision.

Color Perception↗

PubMed1986

Measurement of color thresholds.

It is generally believed that some degree of defective color vision is frequently acquired along with certain ocular and systemic disorders. Precise definition of the nature and extent of the color defects has not been possible because of the limitations inherent in the tests currently available for clinical use. We undertook to define the defects in terms of thresholds of discrimination to each color, plotted on a color circle similar to Munsell's uniform chromaticity scale diagram. Furthermore, we were able to construct a symmetrical-type of colorimeter which plots thresholds directly on a printed circle without having to read and interpret scales or dials. Good correlation of subtle defects with certain disorders was confirmed, and may eventually be helpful in diagnosing and following some types. This system of threshold measurement was found to provide more information about color vision than any one of the conventional tests, or all of them combined.

Adult↗

PubMed1992

Familial optic atrophy with negative electroretinograms.

We describe optic atrophy and abnormal electroretinographic findings in affected members from two families. Central vision failed in the second to third decade of life. Examination findings included visual acuities of 20/20 (1.0) to 20/500 (0.4), defective color vision, mild to moderate myopia, pericentral or centrocecal scotomas, and, in four of five patients, optic atrophy. Dark adaptometry found elevated cone and rod psychophysical thresholds. Bright flash electroretinograms showed normal a-wave amplitude and markedly subnormal b-wave amplitude. Rod responses were low normal to moderately subnormal in amplitude with normal implicit times. Photopic electroretinographic b-wave amplitudes varied from normal to mildly subnormal. Cone implicit times were normal. Because negative electroretinograms are not seen with other familial optic atrophies, the association of optic atrophy with the abnormal negative electroretinogram configuration in these patients represents a newly appreciated genetic disorder.

Adult↗

PubMed1985

Evolution of benign concentric annular macular dystrophy.

In 1974, Deutman described a family with an autosomal dominantly inherited macular dystrophy that he termed "benign concentric annular macular (bull's-eye) dystrophy." Ten years later, we performed a follow-up examination. Some patients complained of deterioration of visual acuity, night vision, and color vision. The macular dystrophy had progressed. The fundus periphery was more involved and in two patients there were bone corpuscle-like pigmentations. Electrophysiologic examination showed increased photoreceptor dysfunction with equal involvement of the rod and cone system. The patients had an acquired type III blue-yellow color vision defect with pseudoprotanomaly.

Adult↗

PubMed1988

Lanthony desaturated panel D15 test in sickle cell patients.

The Lanthony D15 desaturated test was used to compare color vision in sickle cell patients with 20/20 visual acuity and peripheral lesions of sickle cell retinopathy with normal controls. Sickle cell patients had significantly higher Lanthony error scores and significantly more blue-yellow and mixed color vision defects than controls. Among patients with sickle cell anemia (SS), Lanthony and Farnsworth Munsell 100 Hue test scores were significantly correlated, and both tests showed good agreement in identifying the presence or absence of a color defect. These results suggest that the Lanthony D15 test may be a useful clinical tool to identify blue-yellow color defects, especially because of its brevity and simplicity of administration.

Adult↗

PubMed1989

Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry.

We used Southern blot hybridization to study X chromosome-linked color vision genes encoding the apoproteins of red and green visual pigments in 134 unselected Caucasian men. One hundred and thirteen individuals (84.3%) had a normal arrangement of their color vision pigment genes. All had one red pigment gene; the number of green pigment genes ranged from one to five with a mode of two. The frequency of molecular genotypes indicative of normal color vision (84.3%) was significantly lower than had been observed in previous studies of color vision phenotypes. Color vision defects can be due to deletions of red or green pigment genes or due to formation of hybrid genes comprising portions of both red and green pigment genes [Nathans, J., Piantanida, T.P., Eddy, R.L., Shows, T.B., Jr., & Hogness, D.S. (1986) Science 232, 203-210]. Characteristic anomalous patterns were seen in 15 (11.2%) individuals: 7 (5.2%) had patterns characteristic of deuteranomaly (mild defect in green color perception), 2 (1.5%) had patterns characteristic of deuteranopia (severe defect in green color perception), and 6 (4.5%) had protan patterns (the red perception defects protanomaly and protanopia cannot be differentiated by current molecular methods). Previously undescribed hybrid gene patterns consisting of both green and red pigment gene fragments in addition to normal red and green genes were observed in another 6 individuals (4.5%). Only 2 of these patterns were considered as deuteranomalous. Thus, DNA testing detected anomalous color vision pigment genes at a higher frequency than expected from phenotypic color vision tests. Some color vision gene arrays associated with hybrid genes are likely to mediate normal color vision.

Color Perception↗

PubMed1978

Visual function in acute posterior multifocal placoid pigment epitheliopathy.

We examined a 19-year-old woman with acute posterior multifocal placoid pigment epitheliopathy one week after she noted blurring of central vision. Her corrected visual acuity was R.E.: 6/7.5 (20/25), and L.E.: 6/12 (20/40). The visual fields showed 10-degree pericentral scotomas. A color vision defect and an abnormal Stiles-Crawford effect were present. Dark adaptation showed a delayed time course, with normal final thresholds. The electro-oculogram was subnormal, suggesting widespread abnormality of the retinal pigment epithelium. Active lesions resolved within three weeks, but fluorescein angiography showed characteristic widespread residual changes. Within three weeks, she had normal visual acuity and a normal electro-oculogram. Other tests of visual function showed recovery with a slower time course. By one year, the visual fields, color matching, Stiles-Crawford effect, and dark adaptation were almost normal. Analysis of the color-matching data and Stiles-Crawford effect indicated that the abnormalities of macular function were caused by an underlying lesion of the pigment epithelium and photoreceptors. This caused a physical distortion of the photoreceptor layer and metabolic disfunction of the photoreceptors.

Adult↗

PubMed1979

Brief historical note: the concept of "gonadal dysgenesis".

The history of gonadal by dysgenesis cautions against overinterpretation of data: The streak gonads are neither the result of dysgenesis nor of embryonic origin but represent late fetal/neonatal degeneration; the X-chromatin-negative character of the buccal smear and the frequency of color vision defects did not indicate male sex in the Ullrich-Turner syndrome but rather an XO constitution; severity of dysgenesis did not correlate with risk of gonadal neoplasia but with genotype; the gonadal lesion in the Ullrich-Turner syndrome was not due to a pituitary defect but a primary ovarian lesion; patients with the Noonan syndrome do not have the Turner phenotype. The concept of gonadal dysgenesis, introduced to Kermauner in 1912, has outlived its usefulness. Improved methods of phenotype analysis, family studies, and endocrine and cytogenetic methods have showen it to be causally and pathogenetically heterogeneous and have contributed to a better identification and delineation of the several different genetic entities which it formerly comprised.

Europe↗

PubMed1990

Complicated hereditary spastic paraparesis with cerebral white matter lesions.

A family is described with 5 males in a single generation affected with a previously undescribed complicated form of hereditary spastic paraparesis (HSP). The disease is characterized by speech difficulties, lower limb spasticity and hyper-reflexia, mental retardation, cerebellar ataxia, and tremor. The disease starts in the first decade of life and progresses for 3 to 6 years before stabilizing. Magnetic resonance imaging (MRI) of the brain demonstrates bilateral posterior periventricular white matter lesions. Visual evoked responses are markedly prolonged, but electromyography (EMG) and nerve conduction velocity studies are normal. Three of the 4 living affected members of this pedigree exhibit red-green color vision defects. The presentation of a new complicated hereditary spastic paraparesis syndrome in this pedigree extends our understanding of the variability and heterogenity of this syndrome and suggests an approach for the evaluation of similar families in future genetic studies.

Adolescent↗

PubMed1979

Cerebral color blindness: an acquired defect in hue discrimination.

In contrast to the traditional view that striate visual cortex (area 17) is surrounded by two homogeneous cortical areas (areas 18 and 19), recent studies have shown that mammalian extrastriate visual cortex contains several anatomically and functionally distinct subregions. One such region, the V-4 complex of the rhesus monkey, is highly specialized for the analysis of color information, suggesting that a lesion in a homologous region might produce a defect in color vision while sparing other visual functions. We have studied a patient whose clinical syndrome supports this suggestion: a 44-year-old man with normal color vision suffered two cerebral infarctions that produced first a right and then a left superior homonymous quadrantanopia and also caused prosopagnosia, topographical disorientation, and severely impaired color vision. Computed tomography demonstrated extensive lesions in both inferior occipital lobes in the territories of the lateral branches of the posterior cerebral arteries, involving the lingual and medial occipitotemporal gyri bilaterally; these gyri contain the inferior portion of striate cortex and segments of extrastriate visual cortex. The patient had no difficulty in giving the correct color names associated with common objects presented either verbally or in outline drawings. Standardized testing with the Farnsworth-Munsell 100-hue test, the Nagel anomaloscope, and a method that tests for just-noticeable differences between monochromatic stimuli all showed that the patient's ability to distinguish one color from another was markedly imparied but not totally absent. In contrast, visual acuity, reading, visually guided eye movements, and stereopsis were normal. Cells in the V-4 complex of monkey extrastriate cortex are highly specialized for distinguishing one color from another; the hue discrimination deficit that was demonstrated in this patient with cerebral color blindness indicates that a region or regions with similar function has been damaged.

Adult↗

PubMed1986

Cone function and cone interaction in hereditary degenerations of the central retina.

Spectral sensitivity functions and the transient decrease of sensitivity to short wavelengths after the offset of yellow light (transient tritanopia) were measured by increment threshold techniques in patients suffering from hereditary macular degenerations. Color vision defects were determined by arrangement tests and the anomaloscope. Central areolar choroidal dystrophy was found to produce a mild protan defect and to reduce foveal spectral sensitivity throughout the visible spectrum by a factor of 100; it also abolishes transient tritanopia. Electroretinogram (ERG) was normal, electrooculogram (EOG) subnormal. Stargardt's disease, despite numerous fluorescent macular spots, does not abolish transient tritanopia nor does it reduce spectral sensitivity, although scotopic matches were performed on the Nagel anomaloscope. Only in severe, advanced cases was transient tritanopia reduced and spectral sensitivity found to follow the absorption spectrum of rods. Routine ERGs and EOGs were normal. Vitelliform macular degeneration, despite the ophthalmoscopically pronounced dystrophic macula, produced only very small changes in spectral sensitivity and transient tritanopia, although a widened matching range on the Nagel anomaloscope and electrophysiological abnormalities were found. Apparently damage of the retinal circuit which connects long and short wavelength-sensitive cones, caused by hereditary conditions, is different from that caused by retinotoxic drugs.

Adult↗

PubMed1991

Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss.

A 31-year-old man who inexplicably lost vision as a child was referred for evaluation of bilateral optic atrophy. Other family members had also suffered unexplained visual loss. He had asymmetric impairment of visual acuity, central scotomas, and optic disc pallor. He also had a tritan color vision defect and excavation of the temporal portion of his optic discs, two features that were consistent with autosomal dominant optic atrophy. However, examination of the mitochondrial DNA of the proband and of two of his relatives revealed a mutation at nucleotide 11778, known to be associated with Leber's hereditary optic neuropathy. This case illustrates the difficulty physicians may encounter when trying to clinically differentiate Leber's from dominant optic atrophy in patients with remote visual loss, and it emphasizes the importance of obtaining a molecular assay for a mitochondrial mutation in cases of ambiguously classified hereditary optic neuropathy.

Adult↗

PubMed1990

Distinguishing between clinical impairments due to optic nerve or macular disease.

Many optic neuropathies and subtle maculopathies may have similar clinical presentations. This represents a challenge to the ophthalmologist to distinguish between the two on clinical grounds. These patients may not have obvious signs and their symptoms may be ambiguous. For example, a young man presenting with optic neuritis may have similar complaints to one suffering from central serous retinopathy. Several general principles can be used to distinguish between optic neuropathies and maculopathies. Additionally, specific psychophysical tests can be of help. The most important aspect of the history is in establishing the tempo of onset, duration and resolution of the symptoms. Optic nerve lesions often produce symptoms described as dimness or grayness, whereas macular lesions usually reduce visual acuity and produce metamorphopsia. The clinical examination requires comparing optic nerve function studies (afferent pupillary defects, color vision and brightness sense) to visual acuity. Additionally, assessing the central visual field especially through Amsler grid testing or threshold Amsler grid testing is very useful. Certain psychophysical tests can be performed in the office. Threshold amsler grid testing, photostress testing, contrast sensitivity, and the Pulfrich phenomena can all be put to advantage in distinguishing between optic neuropathies and maculopathies.

Diagnosis, Differential↗