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PubMed1990

A quantitative measure of the electrical activity of human rod photoreceptors using electroretinography.

An electrical potential recorded from the cornea, the a-wave of the ERG, is evaluated as a measure of human photoreceptor activity by comparing its behavior to a model derived from in vitro recordings from rod photoreceptors. The leading edge of the ERG exhibits both the linear and nonlinear behavior predicted by this model. The capability for recording the electrical activity of human photoreceptors in vivo opens new avenues for assessing normal and abnormal receptor activity in humans. Furthermore, the quantitative model of the receptor response can be used to isolate the inner retinal contribution, Granit's PII, to the gross ERG. Based on this analysis, the practice of using the trough-to-peak amplitude of the b-wave as a proxy for the amplitude of the inner nuclear layer activity is evaluated.

Adult↗
PubMedDate not supplied

Two signals in the human rod visual system: a model based on electrophysiological data.

In the human rod visual system, self-cancellation of flicker signals is observed at high rod intensity levels near 15 Hz, both perceptually and in the electroetinogram (ERG). This and other evidence suggests that two rod signals are transmitted through the human retina with different speeds of transmission. Here we report a series of flicker ERG recordings from a normal observer and an observer who lacks cone vision. From these results, we propose a quantitative model of the two rod signals, which assumes (1) that the amplitude of the slow signal grows linearly with log intensity but then saturates at approximately 1 scot. td; (2) that the amplitude of the fast signal grows linearly with intensity; (3) that there is a difference in time delay of approximately 33 ms between two rod signals of the same polarity (or of approximately 67 ms if the signals are of inverted polarity); and (4) that the time delay of both signals declines linearly with log intensity (by approximately 10 ms per log scot. td). These simple assumptions provide a remarkably good account of the experimental data. Our results and model are relevant to current anatomical theories of the mammalian rod visual system. We speculate that the slower signal in the human ERG may reflect the transmission of the rod response via the rod bipolars and the AII amacrine cells, while the faster signal may reflect its transmission via the rod-cone gap junctions and the cone bipolars. There are, however, several objections to this simple correspondence.

Adult↗
PubMedDate not supplied

Opponent-color detection threshold asymmetries may result from reduction of ganglion cell subpopulations.

Thresholds for psychophysically opposite stimuli--light and dark, or equiluminous red and green, or equiluminous blue and yellow--are usually nearly equal. This color threshold symmetry is sometimes violated in subjects who have optic nerve hypoplasia, a congenital loss of retinal ganglion cells. We describe a subject who has optic nerve hypoplasia, who exhibits large red-green and blue-yellow detection threshold asymmetries for equiluminous spots. Temporal and spatial integration for equiluminous red and green test spots also differed from normal; static perimetric thresholds for equiluminous green, blue, and yellow (but not red) spots lacked the normal "V" shaped minimum at the fovea. These asymmetries may relate to a developmental paucity of some ganglion cell subtypes. Optic nerve hypoplasia may allow the contributions to detection made by individual ganglion cell subtypes to be isolated psychophysically, in analogy to the study of cone spectral sensitivity in dichromats.

Adult↗
PubMedDate not supplied

Luminance-dependent hue shift in protanopes.

For normal trichromats, the hue of a light can change as its luminance varies. This Bezold-Brücke (B-B) hue shift is commonly attributed to nonlinearity in the blue-yellow opponent system. In the present study, we questioned whether protanopes experience analogous changes. Two protanopes (Ps) viewed spectral lights at six luminance levels across three log steps. Two normal trichromats (NTs) were tested for comparison. A variant of the color-naming method was used, with an additional "white" term. To overcome the difficulty of Ps' idiosyncratic color naming, we converted color-naming functions into individual color spaces, by way of interstimulus similarities and multidimensional scaling (MDS). The color spaces describe each stimulus in terms of spatial coordinates, so that hue shifts are measured geometrically, as displacements along specific dimensions. For the NTs, a B-B shift derived through MDS agreed well with values obtained directly by matching color-naming functions. A change in color appearance was also observed for the Ps, distinct from that in perceived brightness. This change was about twice as large as the B-B shift for NTs and combined what the latter would distinguish as hue and saturation shifts. The protanopic analogue of the B-B shift indicates that the blue-yellow nonlinearity persists in the absence of a red-green signal. In addition, at mesopic levels (< or = 38 td), the Ps' MDS solution was two dimensional at longer wavelengths, suggesting rod input. Conversely, at higher luminance levels (76 td-760 td) the MDS solution was essentially one dimensional, placing a lower limit on S-cone input at longer wavelengths.

Adult↗
PubMedDate not supplied

Color and language: worldwide distribution of Daltonism and distinct words for "blue".

A geographical review of the published literature confirmed that red-green color-vision deficiency (Daltonism) is rare near the equator and more prevalent at higher latitudes, as others have reported. A survey of dictionaries of the languages spoken by the populations for which Daltonism data are available confirmed that distinct words for "blue" are also rare near the equator, and more common at higher latitudes. These results were compared to show an even stronger relation between the proportion of languages with a word for "blue" and the prevalence of Daltonism. We believe that the strong correlation between "blue" and Daltonism suggests that an evolutionary, physiological cause for both phenomena.

Color↗
PubMedDate not supplied

Quantification of color vision with cone contrast sensitivity.

Human color vision is based fundamentally on three separate cone photopigments. Hereditary color deficiency, which affects up to 10% of males, results from an absorption shift or lack of L or M cone phototoreceptors. While hereditary S cone deficiency is rare, decreased S cone sensitivity occurs early in eye disease, underscoring the importance of quantifying S cone function. Our purpose is to describe a novel approach for quantifying human color vision based on the photopigments of normal color vision. Colored letters, visible to a single cone type, are presented in graded steps of cone contrast to determine the threshold for letter recognition. This approach quantifies normal color vision, indicates type and severity of hereditary deficiency, and reveals sensitivity decrements in various diseases.

Color Perception↗
PubMedDate not supplied

Multifocal electroretinogram in trichromat and dichromat observers under cone isolating conditions.

The aim of this study was to obtain information about single cone class driven activity in the inner and outer retina in humans. We examined outer retinal activity with the multifocal electroretinogram (mfERG) and inner retinal activity using multifocal oscillatory potentials (mfOPs). A standard (black-white) stimulus was used, as well as stimuli aimed at isolating a single photoreceptor class. The results of 10 trichromats were compared to those of 2 protanopes and 2 deuteranopes. At both retinal layers we find that trichromats show cone isolating response amplitudes that reflect the expected number of cones and that single- gene dichromats have a similar total number of functioning cones as trichromats. The ratio of the responses of the L- and M-cones is slightly smaller for the mfOPs than for the mfERGs. The results indicate that there are major changes in the gain of retinal signals after the inner plexiform layer.

Adult↗
PubMedDate not supplied

Effect of foveal tritanopia on reaction times to chromatic stimuli.

To investigate the effect of foveal inhomogeneities on sensitivity to chromatic stimuli, we measured simple reaction times (RTs) and detection thresholds to temporally and spatially blurred isoluminant stimuli at retinal eccentricities from 0 deg to 8 deg. Three color-normal subjects participated. Contrast gain was derived from the slope of the RT versus contrast function. With a Gaussian spatial distribution (S.D. = 0.5 deg) and modulation between white (CIE x, y, L = 0.31, 0.316, 12.5 cd x m(-2)) and blue (MBDKL 90 deg), gain was maximal at about 2-deg eccentricity and declined by approximately 1 log unit towards the center and the periphery. The red (0 deg) and green (180 deg) cardinal axes showed maximum gain in the center, whilst the yellow (270 deg) data were intermediate. Although the spatial extent of the Gaussian spot was much larger than the S-cone free zone, we wished to determine whether foveal tritanopia was responsible for the marked drop in sensitivity to the 90-deg stimulus. To align the color vector along a tritan line, we used a smaller disk (0.3 deg) with a blurred edge and measured detection threshold, rotating the vector until minimum central sensitivity was obtained. Other workers have used transient tritanopia or minimally distinct border to similar effect. By repeating this at different locations in color space, a group of vectors were obtained. These converged near to the S-cone co-punctal point, evidence that they lay along tritan confusion lines. These threshold findings were then confirmed using the RT-derived contrast gain function. The tritan vectors were less pronounced as stimulus size increased. With the vector optimized to produce foveal tritanopia, the RT gain versus eccentricity functions for the 90-deg and 270-deg stimuli both fell markedly in the center and periphery, and sensitivity peaked at about 3-deg eccentricity. There are some similarities between these findings and the underlying photoreceptor distributions. As a result, there is a greater difference in gain between red-green and blue-yellow systems in the center than in the near periphery. We conclude that the RT versus contrast function is a sensitive index of foveal opponency.

Color Perception↗
PubMedDate not supplied

Multifocal and full-field electroretinogram changes associated with color-vision loss in mercury vapor exposure.

We evaluated the color vision of mercury-contaminated patients and investigated possible retinal origins of losses using electroretinography. Participants were retired workers from a fluorescent lamp industry diagnosed with mercury contamination (n = 43) and age-matched controls (n = 21). Color discrimination was assessed with the Cambridge Colour Test (CCT). Retinal function was evaluated by using the ISCEV protocol for full-field electroretinography (full-field ERG), as well as by means of multifocal electroretinography (mfERG). Color-vision losses assessed by the CCT consisted of higher color-discrimination thresholds along the protan, deutan, and tritan axes and significantly larger discrimination ellipses in mercury-exposed patients compared to controls. Full-field ERG amplitudes from patients were smaller than those of the controls for the scotopic response b-wave, maximum response, sum of oscillatory potentials (OPs), 30-Hz flicker response, and light-adapted cone response. OP amplitudes measured in patients were smaller than those of controls for O2 and O3. Multifocal ERGs recorded from ten randomly selected patients showed smaller N1-P1 amplitudes and longer latencies throughout the 25-deg central field. Full-field ERGs showed that scotopic, photopic, peripheral, and midperipheral retinal functions were affected, and the mfERGs indicated that central retinal function was also significantly depressed. To our knowledge, this is the first demonstration of retinal involvement in visual losses caused by mercury toxicity.

Adult↗
PubMedDate not supplied

Characterization of a novel form of X-linked incomplete achromatopsia.

X-linked incomplete achromatopsia (XIA), also called blue-cone monochromacy (BCM), is a rare cone disorder that most commonly results either from one of two conditions. The first condition is a deletion of the locus control region (LCR) which is a critical DNA element that lies upstream of the L and M photopigment gene array on the X-chromosome and is necessary for expression of the photopigment genes. The second condition is an inactivating point mutation within the coding sequence of the remaining photopigment gene in an array from which all but one gene has been deleted. Many previous studies have concluded that affected individuals either have only rods and S-cones (Blackwell & Blackwell, 1957, 1961; Daw & Enoch, 1973; Hess et al., 1989) or have rods, S-cones, and another cone type that contains the rod pigment (Pokorny et al., 1970; Alpern et al., 1971). However, Smith et al. (1983) described individuals with XIA who had residual L-cone function. Here we report results for a subject with XIA who appears to have residual M-cone function. Genetic analysis revealed that he had apparently normal genes for M-cone photopigment thus leaving open the possibility that he has a contribution to vision based on expression of these genes at a very low level.

Adult↗
PubMedDate not supplied

Clinical heterogeneity between two Japanese siblings with congenital achromatopsia.

Congenital achromatopsia is a stationary retinal disorder with autosomal recessive inheritance. It is characterized by significant attenuation of cone-photoreceptor function. Symptoms include photophobia, nystagmus, and poor visual acuity from birth. Unlike in cone or cone-rod dystrophies, the retinal fundus usually appears normal. Here we describe two siblings with congenital achromatopsia, who exhibit different ophthalmic phenotypes. History was taken, and ophthalmic examinations were performed in a 7-year-old girl and her 5-year-old brother, who were referred to our department because of poor visual acuity. Two of their grandparents were brother and sister, suggesting an autosomal recessive transmission in inheritance. They have been followed for more than 13 years since the initial evaluation. Symptoms, visual acuity, and kinetic visual field were very similar to each other, consistent with findings of typical congenital achromatopsia. However, color-vision tests suggested that the brother had residual color discrimination, but the sister did not. The siblings had different full-field electroretinographic and spectral-sensitivity findings: residual cone functions were detected in only the brother, in agreement with his residual color vision. They also had different findings of retinal fundi and ocular refractions: the sister had bilaterally atrophic-appearing macular lesions and myopic errors. In contrast, the brother remains hyperopia and has exhibited no specific retinal findings until age 18 years. The causes why both complete and incomplete achromats occur in the siblings are uncertain but might be caused by modifying effects of sex-related genes or by environmental factors influencing certain gene regulations in cone photoreceptors.

Child↗
PubMedDate not supplied

Moreland match revisited.

An earlier analysis, which yielded an optimal pair of blue and green primaries (436 & 490 nm) for tritanomaloscopy, is reevaluated. That analysis minimized population variance in the mid-match points of color normals by taking into account, for a set of blue and green tritanopic metamers, the contributions of the lens and macular pigment variances and of matching range. The revision to the matching-range contribution takes into account the effect, neglected in the original analysis, of the varying angle between the blue-green primary mixture lines and the corresponding cyan test and yellow desaturant mixture lines. Use is made of new measurements of the macular pigment absorbance spectrum, a new estimate of the lens absorbance spectrum, the population variances of the lens and macular pigment, and of matching-range data for a current Moreland equation. Tritanopic metamers are derived from a revised set of cone fundamentals. The net effect of all of these revisions on the specification of optimal primaries is small (440 and 488 nm). However, larger changes are involved in the choice of test and desaturant wavelengths.

Color↗
PubMedDate not supplied

Modelling the Rayleigh match.

We use the photopigment template of Baylor et al. (1987) to define the set of Rayleigh matches that would be satisfied by a photopigment having a given wavelength of peak sensitivity (lambda(max)) and a given optical density (OD). For an observer with two photopigments in the region of the Rayleigh primaries, the observer's unique match is defined by the intersection of the sets of matches that satisfy the individual pigments. The use of a template allows us to illustrate the general behavior of Rayleigh matches as the absorption spectra of the underlying spectra are altered. In a plot of the Y setting against the red-green ratio (R), both an increase in lambda(max) and an increase in optical density lead to an anticlockwise rotation of the locus of the matches satisfied by a given pigment. Since both these factors affect the match, it is not possible to reverse the analysis and define uniquely the photopigments corresponding to a specific Rayleigh match. However, a way to constrain the set of candidate photopigments would be to determine the trajectory of the change of match as the effective optical density is altered (by, say, bleaching or field size).

Color Perception Tests↗
PubMedDate not supplied

Protanopic observers show nearly normal color constancy with natural reflectance spectra.

The ability of color-deficient observers to discriminate between illuminant changes and surface-reflectance changes in a scene was tested with natural and Munsell reflectance spectra. To avoid the confounding effects of spatial structure, stimuli were simulations of Mondrian-like colored patterns, presented on a computer-controlled color monitor. Protanopes performed less well than normal trichromats, regardless of the type of reflectance spectra, but they were least disadvantaged with patterns comprising reflectance spectra drawn from urban and rural scenes, more characteristic of the natural environment.

Adult↗
PubMedDate not supplied

Photopigment optical density of the human foveola and a paradoxical senescent increase outside the fovea.

Photopigment optical density (OD) of middle-(M) and long-(L) wavelength-sensitive cones was determined to evaluate the hypothesis that reductions in the amount of photopigment are responsible for age-dependent sensitivity losses of the human cone pathways. Flicker thresholds were measured at the peak and tail of the photoreceptor's absorption spectrum as a function of the intensity of a bleaching background. Photopigment OD was measured at 0 (fovea), 2, 4, and 8 deg in the temporal retina by use of a 0.3-deg-diameter test spot. Seventy-two genetically characterized dichromats were studied so that the L- and M-cones could be analyzed separately. Subjects included 28 protanopes with M- but no L-cones and 44 deuteranopes with L- but no M-cones (all male, age range 12-29 and 55-83 years). Previous methods have not provided estimates of photopigment OD for separate cone classes in the foveola. In this study, it was found that foveolar cones are remarkably efficient, absorbing 78% of the available photons (OD = 0.65). Photopigment OD decreased exponentially with retinal eccentricity independently of age and cone type. Paradoxically, the OD of perifoveal cones increased significantly with age. Over the 70-year age range of our participants, the perifoveal M- and L-cones showed a 14% increase in capacity to absorb photons despite a 30% decrease in visual sensitivity over the same period.

Adolescent↗
PubMedDate not supplied

Interactions between rod and L-cone signals in deuteranopes: gains and phases.

The dynamics of interactions between rod and L-cone driven signals were studied psychophysically in two deuteranopic observers. Flicker detection thresholds for different ratios of rod to L-cone modulation were measured at temporal frequencies between 1 and 15 Hz. A model, which assumes that rod and L-cone driven signals are vector added, can describe the threshold data adequately. We found that up to about 8-10 Hz temporal frequency, rod and L-cone signals interact additively, whereas at higher frequencies the interaction is subtractive. Rod and L-cone signal strengths depend similarly on temporal frequency and are maximal between 3 and 5 Hz. The phase difference between rod and L-cone signals increases linearly with temporal frequency, indicating that their responses have a delay difference of about 20 to 30 ms, consistent with involvement of the faster rod pathway. The data would suggest a nearly complete additivity of the rod and cone driven signals when using flashed stimuli. But, literature data showed only partial additivity of the two, suggesting that different postreceptoral mechanisms are involved in the two tasks.

Adult↗
PubMedDate not supplied

Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.

Congenital achromatopsia is a stationary retinal disorder with autosomal recessive inheritance that is characterized by loss of color discrimination, low visual acuity, photophobia, and nystagmus. This disorder has been shown to be associated with CNGA3, CNGB3, and GNAT2 mutations, and the frequency of mutations in the CNGA3 gene (encoding alpha subunit of the cone-specific cGMP-gated cation channel) was 23-33% in European populations. The aim of this study was to test the hypothesis that CNGA3 mutations are also responsible for congenital achromatopsia in Japanese patients. DNA from venous blood samples from a total of 14 patients from 13 Japanese pedigrees was prepared. Mutation screening of the CNGA3 gene was performed using direct sequencing and PCR-single-strand conformation polymorphism analysis. Compound heterozygous missense mutations (p.R436W and p.L633P, the latter of which was novel) were identified in one patient only, a 22-year-old female. Neither of these two mutations was found in 150 Japanese control individuals. The patient's parents and sister carried one of these mutations each but were not affected. No mutations in the CNGB3 or GNAT2 genes were identified in the patient. Clinically, best-corrected visual acuity was 0.1 in both eyes. No specific findings were obtained in funduscopy. Optical coherence topography revealed a normal foveal thickness but a 20% decrease in parafoveal thickness. Ganzfeld full-field electroretinograms (ERGs) showed normal responses in rod and mixed rod-plus-cone ERGs but no response in cone or 30-Hz flicker ERGs. Spectral sensitivity on a white background revealed a curve with only one peak at around 500 nm, which fits the absorption spectrum of human rhodopsin. L633, conserved among vertebrate orthologs of human CNGA3, is a hydrophobic residue forming part of the carboxy-terminal leucine zipper (CLZ) domain, which is functionally important in the mediation of intracellular interactions. To our knowledge, this is the first report of a Japanese complete achromat with CNGA3 mutations, and of any patient with a missense mutation within the CLZ domain. The outcome suggests low frequency (7%, 1/14) of CNGA3 mutations in Japanese patients.

Adult↗
PubMedDate not supplied

Anomalous trichromats' judgments of surface color in natural scenes under different daylights.

Deuteranomalous trichromacy, which affects medium-wavelength-sensitive cones, is more common than protanomalous trichromacy, which affects long-wavelength-sensitive cones. The aim of the present work was to test the extent to which these two kinds of anomalous trichromacy affect surface-color judgments in the natural world. Simulations of 18 natural scenes under different daylight illuminants were presented on a high-resolution color monitor to 7 deuteranomalous, 7 protanomalous, and 12 normal trichromatic observers, who had to discriminate between reflectance and illuminant changes in the images. Observers' ability to judge surface color was quantified by a standard color-constancy index. Deuteranomalous trichromats performed as well as normal trichromats, but protanomalous trichromats performed more poorly than both. The results are considered in relation to the spectral coverage of cones, rod intrusion, and the characterization of anomalous trichromacy by the Rayleigh match.

Adolescent↗