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At least 1,711 records · Page 95Linked to original sources
PubMed1994

Prospective, randomized, placebo-controlled, double-blind testing of colour vision and electroretinogram at therapeutic and subtherapeutic digitoxin serum levels.

In a prospective, randomized, double-blind study with 10 healthy probands, changes in colour discrimination and in the pattern electroretinogram (P-ERG) and visually evoked cortical potentials (P-VECP) were monitored at therapeutic and subtherapeutic digitoxin serum levels. There was a slight increase in the total error score in the Farnsworth-Munsell 100-hue test at 0.1 mg digitoxin per day in comparison with the placebo. P-ERG and P-VECP did not show any significant changes.

Adult↗
PubMed2002

Estimates of L:M cone ratio from ERG flicker photometry and genetics.

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.

Adolescent↗
PubMed2006

Advantages and disadvantages of human dichromacy.

We compared the visual detection thresholds for cone-isolating stimuli of trichromats (those with normal color vision) with those of X-linked dichromats, who lack either the long-wavelength-sensitive (L) cones (protanopes) or middle-wavelength-sensitive (M) cones (deuteranopes). At low (1 Hz) temporal frequencies, dichromats have significantly higher (twofold) thresholds for all colored stimuli than trichromats; whereas at high (16 Hz) temporal frequencies, they perform as well or better than trichromats. The advantages of dichromats in detecting high temporally modulated targets can be related to an increased number, through replacement, of the remaining L- or M-cone type. However, their disadvantages in detecting low temporally modulated targets, even in directions of color space where their increased number of cone photoreceptors might be expected to be beneficial, are best explained in terms of the loss of L-M cone opponency and the inability of the visual pathways to reorganize to allow the detection of low-frequency luminance modulation.

Case-Control Studies↗
PubMed2004

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

PURPOSE: The present study was designed to elucidate the molecular genetic basis of a congenital stationary cone dysfunction characterized by congenital nystagmus, moderate visual impairment, and markedly disparate color vision deficiencies between two affected cousins. METHODS: Ophthalmic examinations with emphasis on color vision and electrophysiology. Molecular genetic analysis of the X-linked cone opsin genes, mutation screening of the CNGA3, CNGB3, and GNAT2 genes, and heterologous splicing experiments. RESULTS: Whereas the proband was found to carry a homozygous frameshift mutation (Tyr95fs) in GNAT2, her cousin was compound heterozygous for the Tyr95fs and a new intronic mutation c.461 + 24G-->A. Heterologous expression in COS7 cells showed that the latter causes a splicing defect that results in early translation termination. Yet, this mutation is leaky, giving rise to small amounts of correctly spliced transcripts and offer an explanation for the diverging clinical findings in the cousins, one best described as incomplete achromatopsia and the other with oligocone trichromacy. CONCLUSIONS: The cases presented broaden the phenotypic spectrum of GNAT2 mutations and underline the increasing importance of molecular genetics in the clinical diagnosis of atypical ophthalmic phenotypes.

Adolescent↗
PubMedDate not supplied

Ophthalmologic findings in fifteen patients with Wolfram syndrome.

PURPOSE: To look for ophthalmologic abnormalities in 15 patients with Wolfram syndrome, also known as DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). METHODS: Fifteen patients from four inbred families diagnosed as having Wolfram syndrome at the National Center for Diabetes, Endocrinology and Genetics, in Amman, Jordan, were evaluated ophthalmologically. Their examination included best-corrected visual acuity, color vision testing, pupillary light reflexes, slit-lamp biomicroscopy and fundus examination. Fundus fluorescein angiography was done in all patients. RESULTS: The prevalence of optic atrophy was (93.3%), colordefect (92.9%), cataract (66.6%), pigmentary retinopathy (30%) and diabetic retinopathy (20%). Abnormal pupillary light reflexes and nystagmus were also reported. CONCLUSIONS: Although ourgroup of patients was genetically heterogeneous, the ophthalmic findings are consistent with those reported in other series, except for cataract which was highly prevalent but mild and did not contribute significantly to loss of vision.

Adolescent↗
PubMed2002

Visual and spectrophotometric shade analysis of human teeth.

Due to interhuman differences in the perception of color, visual shade assessment of human teeth is lacking standardization that may be improved by the use of a spectrophotometer. In this study, we tested the hypothesis that spectrophotometric assessment of tooth color is comparable with human visual determination. On 30 patients, three operators with unreported visual color deficiency independently selected the best match to the middle third of unrestored maxillary central incisors, using a Vita Classical Shade Guide. The same teeth were measured by means of a reflectance spectrophotometer. In the human group, all 3 visual shade selections matched in only 26.6%. In the spectrophotometric group, all 3 shade selections matched in 83.3%. In 93.3%, Delta E values of visually assessed tooth shades were higher than spectrophotometrically assessed Delta E values (p < 0.0001). The results suggest that spectrophotometric shade analysis is more accurate and more reproducible compared with human shade assessment.

Adolescent↗
PubMed1985

Color blindness and Rorschach color responsivity.

Color vision deficits occur in 10% of the American white male population. Thus, color blindness may invalidate diagnostic hypotheses generated from Rorschach data. The Rorschach protocols of 43 white, college male color-blind subjects were compared to the protocols of normally sighted controls. The color-blind group manifested fewer pure "C" responses. No significant between group differences emerged for any of the other primary Rorschach color variables. Pure "C" responses rarely figure prominently in Rorschach evaluations, and the apparent lowered frequency of these responses by the color-blind is insufficient to warrant modification of current Rorschach practice. The data suggest that color blindness is unlikely to confound Rorschach assessment.

Adult↗
PubMed1984

Visual agnosia without alexia.

A 41-year-old man presented with bilateral posterior cerebral artery infarcts. He had visual object agnosia and prosopagnosia with preservation of reading abilities. There was also defective visual memory, topographic orientation, and color perception, as well as simultanagnosia. From the clinical facts and CT findings, it was postulated that bilateral visual-limbic disconnection accounted for the patient's visual agnosia and related disturbances.

Adult↗
PubMed1979

Checkerboard visual evoked response in evaluation and management of pituitary tumors.

As a routine part of the evaluation of patients with pituitary tumor, visual evoked responses (VERs) to checkerboard pattern reversal were recorded from 83 patients with tomographically documented pituitary tumor. VER tests were correlated with examinations of visual acuity, color perception, and visual fields and with computerized tomographic scan evidence of suprasellar extension of the tumor. The purpose of the VER recording was to determine the presence of visual system compression by the tumor and thus contribute to the decision of whether surgery was necessary. Each of the patients who had suprasellar extension of the tumor sufficient to produce a visual field abnormality also had an abnormal VER. In addition, some patients with suprasellar extension had normal visual fields but abnormal visual evoked responses. Thus, the VER provided earlier evidence of suprasellar extension causing visual system compromise than did conventional visual tests.

Adenoma, Chromophobe↗