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Deuteranopia is a dichromatic color vision defect which may cause problems for an individual asked to perform color-oriented tasks. This can especially create problems for grade school children in classrooms whose instructional material depends heavily on color. This case report presents a child with a deuteranopic color vision defect who was mistakenly labeled learning disabled because of his inability to learn and perform color oriented tasks.
Early detection of congenital color vision defects is desirable, but school screening studies have been stymied by lack of a suitable test. We evaluated a new color vision test, the APT-5, for use by volunteer screeners in schools and preschools. The screeners tested 1794 children, ages 3 to 13 years, and found the APT-5 easy to use with young children ages 5 years and up. Children who failed the screening were recruited for diagnostic color vision testing; for the children ages 5 to 13 years, 56% of those who failed the screening were successfully recruited. Data analysis indicated that the false-positive rate in this age group was 1% to 2%, and that for boys in this age group the positive predictive value was 71% to 81%. Retest data indicated that most false-positives were not due to the test itself, but to other factors in the school screening situation. Two thirds of all children scored as abnormal by anomaloscopy were simple deuteranomalous, indicating that the APT-5 effectively identified even mild color defects. The results of this trial indicate that the APT-5 is suitable for school color vision screening of children ages 5 years and up.
A unique form of dichromatic color vision is described in a family with incomplete achromatopsia. In 1966, incomplete achromatopsia was diagnosed in 4 of 14 children of a consanguineous marriage. The 4 affected had best visual acuities of 6/60 or 6/180, pendular nystagmus, and aversion to bright lights. The ERG showed minimal photopic responses. No abnormality of rod function was present. There was a severe color vision defect. In 1976, one of the patients returned for further color testing. Color tests included measurement of the luminous efficiency function using heterochromatic flicker photometry and colorimetric evaluation. The luminous efficiency function resembled that of the protanope. From the colorimetric measurements, we conclude that the patient has a unique form of dichromatic color vision mediated by two visual photopigments: the normal MWS cone photopigment and a photopigment with the spectral characteristics of rhodopsin.
Color vision is a critical component of restorative and esthetic dentistry, but dentists, as a group, do not have their color vision tested at any time during their careers. A study was undertaken to ascertain the color-vision status of practicing dental personnel at the University of Tennessee, College of Dentistry. One hundred fifty individuals, 75 men and 75 women, were screened. The results corroborated the existing medical data for the general population. It was found that 9.3% of the men and none of the women exhibited color-vision defect. Since most dentists are male, this study demonstrates an area of potential weakness for some practitioners. Once a color-vision problem is found, it is simple to remedy by employing a team approach to shade matching or mechanical means of matching shades (by the practitioner). No ethnic or racial distinctions were detected, although these have been reported in other studies.
Forty-eight patients aged from 60 to 69 years (58 eyes) with ocular hypertension (OHT) or primary open angle glaucoma (POAG) and a control group of 16 persons (31 eyes) were studied with six color vision tests: Standard Pseudoisochromatic Plates Part 2, Farnsworth Panel D 15, Farnsworth-Munsell 100-hue (FM 100) test, Lanthony Desaturated Panel, Nagel (red-green) anomaloscope, and Besançon (blue) anomalometer. In the color vision tests, the newly diagnosed OHT eyes without treatment differed significantly from the control group in the blue anomalometer. The long-term OHT eyes with treatment had no significant difference from the normals in any of the tests. The newly diagnosed POAG eyes without treatment were significantly different from the normals in the FM 100 test as well as in the boxes I, II, III and IV of the test, in the Lanthony Desaturated Panel and in the blue anomalometer. The long-term POAG eyes with treatment only differed significantly from the normal eyes in the blue anomalometer. The box IV of the FM 100 test and blue anomalometer were observed to be the most useful of these six tests in finding the possible early beginning of the blue color vision defect in the group of newly diagnosed OHT.
We surveyed a broad range of visual functions in a man who complained of abnormal color experience and inability to recognize faces following bilateral damage in the visual cortex. A lesion in his right visual cortex caused complete left visual field loss. A lesion in his left visual cortex, located entirely below the calcarine fissure, affected the vision in his remaining hemifield, the right one. Psychophysical testing showed severely defective color vision and pattern processing, but relatively normal luminance contrast detection thresholds. The finding of normal spatial contrast sensitivity and static stereopsis did not resemble a parvocellular defect of the type described in the monkey. The abilities to detect global coherent motion among noise, structure from motion and dynamic stereopsis, and to pursue moving targets showed normal motion processing at several levels. Together with normal flicker perception, these results excluded magnocellular or MT-like defects. Altogether, the findings mimic area V4 dysfunction.
We analyzed the clinical and electrophysiological findings of 77 patients suffering from progressive cone or cone-rod dystrophies. The onset of symptoms was at the average age of 19.7 +/- 19.4 years. In some patients, the disease started within the 5th decade. The mean visual acuity was 0.19 +/- 0.2, while in 38%, the visual acuity was lower than 0.1. Color vision defects and visual field defects were found in most patients. The electrooculogram was recorded in 59 patients and was normal in only 19. On the electroretinogram (ERG), 60 patients had a reduction of the 30-Hz flicker amplitude and of the responses at maximum stimulus intensity when dark and light adapted. The ERG alterations showed a correlation to the visual field defects and to the reduction of the light rise on the electrooculogram. No correlation existed between the ERG amplitudes and visual acuity or color vision. Ophthalmoscopically, the posterior pole was normal in 25 patients. In the remaining patients, fundus changes ranged from mild pigment irregularities to severe pigment clumping. No correlation between fundus changes and functional findings existed.
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.
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.
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.
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.
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.
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.
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We have examined the possible presence of color vision anomalies in 9 individuals (17 eyes, 1 blind) with fundus findings suggesting ocular albinism using the Ishihara plates, the 28-hue Roth test, and the Davico anomaloscope. Results indicate that four of these individuals show no sign of the anomalies expected in an albino in either of the two eyes. Of the remaining cases, two are simple deuteranomals in both eyes, according to Pickford's classification criteria. The rest have protanomaly; however, in these the deviation toward red appears in both eyes in only one subject, whereas in the other two subjects it appears in only one eye, their binocular color vision being basically normal. Our study shows that a large proportion of these albinos have photophobia, pendular nystagmus, strabismus, noticeable refractive errors (astigmatism and high myopia), and poor visual acuity [usually less than 6/30 (20/100) with correction]. The measurement of contrast sensitivity function (CSF) indicates that the frequency of 12 cpd cannot be perceived, even in binocular vision.