Complete Achromat Research Articles

The Role of Consciousness in Grasping and Understanding

One sometimesbelievesa proposition withoutgraspingit. For example, a complete achromat might believe that ripe tomatoes are red without grasping this proposition. My aim in this paper is to shed light on the difference between merely believing a proposition and grasping it. I focus on two possible theories of grasping: the inferential theory, which explains grasping in terms of inferential role, and the phenomenal theory, which explains grasping in terms of phenomenal consciousness. I argue that the phenomenal theory is more plausible than the inferential theory.

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.

Temporal and spatial summation in the human rod visual system.

1. Absolute and increment thresholds were measured in a retinal region 12 deg temporal from the fovea with 520 nm targets of varying size and duration. Measurements were made under rod-isolation conditions in two normal observers and in a typical, complete achromat observer who has no cone-mediated vision. The purpose of these experiments was to determine how the temporal and spatial summation of rod-mediated vision changes with light adaptation. 2. The absolute threshold and the rise in increment threshold with background intensity depend upon target size and duration, but the psychophysically estimated dark light of the eye (the hypothetical light assumed to be equivalent to photoreceptor noise) does not. 3. The rise in increment threshold for tiny (10 min of arc), brief (10 ms) targets approaches the de Vries-Rose square-root law, varying according to the quantal fluctuations of the background light. The slope of the rod increment threshold versus background intensity (TVI) curves in logarithmic co-ordinates is about 0.56 +/- 0.04 (when cones are not influencing rod field adaptation). For large (6 deg) and long (200 ms) targets, a maximum slope of about 0.77 +/- 0.03 is attained. 4. The steeper slopes of the rod-detected TVI curves for large, long targets implies some reduction in temporal or spatial summation. In fact, the change in summation area is much more critical: under conditions where only the rod system is active the TVI curve slope is independent of target duration, suggesting that temporal summation is practically independent of background intensity. 5. The rise in threshold also depends on the wavelength of the background field in the normal observer but not in the achromat, confirming reports that the field adaptation of the rods is not independent of the quantal absorptions in the cones. The cone influence is most conspicuous on long-wavelength backgrounds and is found for all target sizes and durations, but is greater for large and long targets than for the other conditions.

Spatial integration and sensitivity changes in the human rod visual system.

1. The factor by which increment threshold rises with increasing background intensity is less if the target is small than if it is large. The difference is usually attributed to a reduction in the area over which visual signals are integrated as the visual system light adapts. Recently, however, it has been argued that the difference in slope may instead be caused by an increase in the gain of the local response function with light adaptation. 2. To test this hypothesis in the rod-driven visual system, we compared monoptic, small and large target increment thresholds, and dichoptic, large target brightness matches, measured as a function of background intensity in a typical, complete achromat, who has no cone vision. 3. The dichoptic brightness matches were made using a large target of a similar intensity to the threshold intensity of the small target. If local intensity is important, the large target brightness matching curve should be more similar to the shallow, small target threshold curve. But, if changes in spatial integration are important, the brightness matching curve should be similar to the steeper, large target threshold curve. 4. The slope of the large (1.85 deg) target increment threshold functions measured with either 200 or 50 ms test flashes were steeper than those of the small (10 min of arc) target functions by 0.10 (on logarithmic co-ordinates) or about 15%. 5. The logarithmic slopes of the dichoptic brightness curves were also slightly steeper than the small target increment functions. This is contrary to the local response (only) hypothesis, which predicts that the brightness curve should have the same slope as the small target function because the luminance of the targets in the two cases is the same. 6. We conclude that there must be a change in spatial integration in the rod visual system during light adaptation, over and above that due to local gain changes.

The field adaptation of the human rod visual system.

1. Incremental thresholds were measured in a retinal region 12 deg temporal from the fovea with a target of 200 ms in duration and 6 deg in diameter superimposed on background fields of various intensities and wavelengths. Measurements were made under rod-isolation conditions in five normal observers and in a typical, complete achromat observer who had no cone function. 2. The rise in threshold with background intensity changes with background wavelength in the normal trichromat observers. On 450, 520 and 560 nm backgrounds the average slope in logarithmic co-ordinates (0.78 +/- 0.04, S.D.) is similar to that found for the achromat--whose slope is independent of background wavelength (0.79 +/- 0.03)--but on a 640 nm background it more nearly approaches Weber's law (0.91 +/- 0.02). This indicates that the sensitivity of the rods to an incremental target is not determined by quantal absorptions in the rods alone but by quantal absorptions in both the rods and the cones. 3. Rod incremental thresholds were also measured in various colour-blind observers lacking one or more of the cone classes: a blue-cone monochromat, four deuteranopes and a protanope. For the blue-cone monochromat, like the achromat, the slope of the increment threshold curve is constant with background wavelength. For the deuteranopes and the protanope, like the normal, the slope increases with wavelength. The protanope, however, shows a smaller increase in slope, consistent with the lower sensitivity of his cones to long-wavelength light. 4. The dependence of the field adaptation of the rods on the cones was confirmed by field-mixture experiments, in which the incremental threshold was measured against bichromatic backgrounds, and in silent substitution experiments, in which backgrounds equated for their effects on either the cones or the rods but not both were instantaneously substituted for one another.

The directional sensitivity of the photoreceptors in the human achromat.

1. The anatomical nature of the retinal photoreceptors in a typical, complete achromat was investigated by measuring their directional sensitivity. 2. A small (0.5 deg), brief (94 ms) test flash was placed at threshold by varying either its intensity (indirect method) or the intensity of a large (5 deg) adapting field (direct method). The dependent variable was the intensity of light required for the detection threshold as a function of the position of entry in the pupil. An infra-red viewing system was used to monitor the achromat's pupil and eye position. 3. At both scotopic and mesopic adapting field luminances, the complete achromat's receptors displayed only a small directional sensitivity effect. The effect was not wavelength dependent and could be attributed solely to the rods. 4. The results are consistent with other psychophysical evidence indicating that the complete achromat's retinae lack the post-receptoral function of the cone photoreceptors. Therefore they do not confirm previous reports that complete achromats have a second, high-intensity type of photoreceptor.

Temporal summation in the achromat

We investigated temporal summation of the rods in a complete achromat, who lacks cone vision. Critical duration ( t c ) was estimated both at the achromat's preferred area of fixation and at an area 12 deg laterally in the nasal visual field. Comparable t c determinations were made in a normal trichromat. At background luminances of 0.0 and 0.6 scot. td, where the rods mediate detection, the values of t c were similar for the achromat and the normal. At a luminance of 813 scot. tds, however, where the middle-wavelength sensitive cones mediate detection in the trichromat, the t c for the achromat was much longer than that for the trichromat.

Spatial vision of the achromat: spatial frequency and orientation-specific adaptation.

1. The psychophysical technique of selective adaptation to stationary sine-wave gratings of varying spatial frequency and orientation was used to investigate the central processing of spatial information in the visual system of the complete achromat. 2. For adapting spatial frequencies of 1 and 2 cycles/deg, the spatial frequency and orientation selectivity of contrast threshold elevation is similar for achromatic and trichromatic vision. 3. For adapting frequencies below 1 cycle/deg, the achromat shows threshold elevations of normal magnitude with symmetrical spatial frequency and orientation tuning for adapting frequencies as low as 0.09 cycles/deg with 'bandwidth' estimates similar to those found at high frequencies in the trichromat. Below 0.66 cycles/deg no after-effect could be obtained in the trichromat, and the frequency tuning at 0.66 cycles/deg was skewed towards higher frequencies. 4. The interocular transfer of low-frequency adaptation in the achromat was 50%, which is the same value obtained at higher frequencies. 5. The time course of the decay of low spatial frequency adaptation in the achromat was similar to that found at higher frequencies. 6. Control experiments show no low-frequency adaptation in peripheral vision or in central vision in the dark-adapted trichromat indicating that low spatial frequency adaptation cannot be elicited through the rod system of the trichromat. 7. It is proposed that the observed range shift of adaptable spatial frequency mechanisms in the achromat's visual cortex is the result of an arrest at an early stage of sensory development. The visual cortex of the achromat is comparable, with respect to spatial processing, to that of the young, visually normal human infant.

Regional variation of contrast sensitivity across the retina of the achromat: sensitivity of human rod vision.

1. Detection thresholds for two-dimensional Gabor functions of varying spatial and temporal frequency were used to investigate the post-receptoral sensitivity across the retina of the typical and complete achromat. 2. Under photopic conditions there is no evidence for post-receptoral cone function at any retinal eccentricity investigated. Sensitivity saturates in a way consistent with known psychophysical and electrophysiological measures of rod saturation. This occurs in a unitary fashion across the retina. 3. Under scotopic conditions the regional fall-off in spatio-temporal sensitivity is similar for the achromat and duplex retina. This suggests that the rods in the achromat make normal neural connections. 4. Taken together this supports the contention that the typical and complete achromat is a functional rod monochromat and hence can be used to explore the sensitivity of the isolated rod post-receptoral mechanism under mesopic conditions where its sensitivity is optimal. This is where its contribution is most difficult to isolate in the duplex retina. 5. For the human rod mechanism, mesopic post-receptoral sensitivity for all spatio-temporal stimuli is optimal in the central region of the retina and falls off as a function of eccentricity. 6. For localized stimuli, peripheral spatial sensitivity is reduced evenly at all spatial frequencies compared with that of the central retina. A similar displacement of the spatial sensitivity function of the rod mechanism occurs as illuminance is reduced. 7. For localized stimuli, temporal acuity of the rod mechanism is around 20-25 Hz irrespective of retinal position. As the illuminance is further lowered dynamics of the rod pathway are reduced irrespective of retinal position and the sensitivity function maintains a bandpass shape. 8. The regional distribution sensitivity of the rod mechanism changes as illuminance is reduced from mesopic to scotopic levels.

Spatial and temporal limits of vision in the achromat.

Threshold detection for sine-wave grating stimuli of varying spatial and temporal frequency was used to investigate the nature of spatial and temporal post-receptoral sensitivity in the typical, complete achromat. Threshold spatial and temporal sensitivities under low photopic conditions show no evidence of cone function. The abrupt fall-off in sensitivity is consistent with known psychophysical and electrophysiological measures of rod saturation. Threshold spatial and temporal sensitivities under scotopic conditions are identical in form and absolute sensitivity to that of the normal scotopic system. Spatial and temporal acuity measurements substantiate the above conclusions based on contrast sensitivity. We conclude that the typical and complete achromat possesses only a normal functioning rod post-receptoral mechanism.