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Biomedical subjects

J D Mollon

Publications and source records attributed to J D Mollon.

At least 19 recordsLinked to original sources
PubMed2006

Color discrimination in carriers of color deficiency.

Carriers of X-linked color vision deficiencies have previously been reported to exhibit mild abnormalities of color matching and discrimination. In a sample of 55 carriers of protan and deutan deficiencies and 55 age-matched normal controls, we measured chromatic discrimination along a red-green axis. We found that discrimination was impaired in the case of carriers of deutan deficiencies (which affect the middle-wave-sensitive cones of the retina), but was normal in the case of carriers of protan deficiencies (which affect the long-wave-sensitive cones). We argue that this result can be explained by the difference in the relative numbers of middle- and long-wave cones in heterozygous retinae: the imbalance of the two cone types is predicted to be much greater in the case of the deutan heterozygote than in the case of the protan heterozygote. In future studies it will be necessary to consider separately the two types of heterozygote.

Adult↗
PubMed2005

The comparison of spatially separated colours.

We have measured chromatic discrimination as a function of the spatial separation of the stimuli within the visual field. Pairs of stimuli were presented on an imaginary circle of 5 degrees radius and the distance between their centres was varied up to 10 degrees. Stimulus duration was 100 ms. Constructing an analogue of the MacLeod-Boynton diagram for an extra-foveal observer, we made separate series of measurements for the L/(L+M) and S/(L+M) axes of colour space. For both these axes, discrimination was optimal when there was a small spatial interval between the boundaries of the stimuli; thereafter thresholds rose moderately with increasing separation. Nevertheless, even at a separation of 10 degrees , subjects exhibited impressive discrimination, achieving thresholds in the range 0.4-2% on the L/(L+M) axis and in the range 3-6% on the S/(L+M) axis. Even when the two stimuli fell in different hemifields and transmission of information across the corpus callosum was required, accuracy did not differ significantly from that obtained when both stimuli fell within one hemifield. The human ability to compare remote stimuli requires an explanation. We argue that the discrimination is unlikely to depend on hard-wired neural comparators and may depend on neural representations that can be transmitted on a cerebral bus independently of the particular neurons carrying the code. Contrary to earlier reports, chromatic discrimination was not systematically better in the left visual field than in the right. And only one subject showed a significant advantage of the lower hemifield over the upper hemifield.

Color Perception↗
PubMed2005

Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.

AIM: To perform a detailed clinical and psychophysical assessment of the members of three British families affected with blue cone monochromatism (BCM), and to determine the molecular basis of disease in these families. METHODS: Affected and unaffected members of three families with BCM were examined clinically and underwent electrophysiological and detailed psychophysical testing. Blood samples were taken for DNA extraction. The strategy for molecular analysis was to amplify the coding regions of the long wavelength-sensitive (L) and middle wavelength-sensitive (M) cone opsin genes and the upstream locus control region by polymerase chain reaction, and to examine these fragments for mutations by direct sequencing. RESULTS: We have confirmed the reported finding of protan-like D-15 arrangements of patients with BCM. In addition, we have demonstrated that the Mollon-Reffin (MR) Minimal test is a useful colour-discrimination test to aid in the diagnosis of BCM. Affected males were shown to fail the protan and deutan axes, but retained good discrimination on the tritan axis of the MR test, a compelling evidence for residual colour vision in BCM. This residual tritan discrimination was also readily detected with HRR plates. In two families, psychophysical testing demonstrated evidence for progression of disease. In two pedigrees, BCM could be linked to unequal crossovers within the opsin gene array that resulted in a single 5'-L/M-3' hybrid gene, with an inactivating Cys203Arg mutation. The causative mutations were not identified in the third family. CONCLUSIONS: The MR test is a useful method of detecting BCM across a wide range of age groups; residual tritan colour discrimination is clearly demonstrated and allows BCM to be distinguished from rod monochromatism. BCM is usually classified as a stationary cone dysfunction syndrome; however, two of our families show evidence of progression. This is the first report of progression associated with a genotype consisting of a single 5'-L/M-3' hybrid gene carrying an inactivating mutation. We have confirmed that the Cys203Arg inactivating mutation is a common sequence change in blue cone monochromats.

Adolescent↗
PubMed2005

A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".

AIMS: To characterise the detailed phenotype of "cone dystrophy with supernormal rod ERG" in a case series of 10 patients. METHODS: 10 affected patients were examined clinically and underwent colour fundus photography, with nine undergoing detailed electrophysiological testing. Five patients were assessed further with fundus autofluorescence (AF) imaging, automated photopic and dark adapted perimetry, and dark adaptometry. Detailed colour vision assessment was performed in six subjects. Blood samples were taken from four patients for DNA extraction and mutation screening of NR2E3 was undertaken. RESULTS: The onset of symptoms was in the first and second decades of life. Subjects presented with reduced central vision and marked photophobia. All individuals were myopic and colour vision testing revealed severely reduced colour discrimination predominantly along the red-green axes; tritan colour vision was relatively well preserved. Nyctalopia is a later feature of the disorder. Funduscopy and AF imaging revealed a range of macular appearances. There was electrophysiological evidence of marked macular dysfunction, reduced and delayed cone responses, and supernormal and delayed rod responses. Photopic and dark adapted perimetry revealed central scotomata with widespread peripheral sensitivity loss. No disease causing sequence variants in NR2E3 were identified. CONCLUSIONS: The largest case series to date has been described of the clinical, psychophysical and electrophysiological characteristics of this unusual cone dystrophy with supernormal rod responses. Electrophysiological data were consistent with a post-phototransduction, but pre-inner nuclear layer, site of dysfunction. While the definitive diagnosis can only be made with electrophysiological testing, several characteristics that may increase suspicion of this diagnosis are presented.

Adolescent↗
PubMed2004

Is the S-opponent chromatic sub-system sluggish?

The S-opponent pathway has a reputation for being sluggish relative to the L/M-opponent pathway. Cottaris and De Valois [Nature 395 (1998) 896] claim that S-opponent signals are available in Macaque V1 only after 96-135 ms whereas L/M-opponent signals are available after 68-95 ms. Our experiments tested whether this large latency difference could be observed psychophysically. We measured reaction times to S/(L + M) and L/(L + M) increments. Both the equiluminant plane and the tritan line were empirically determined and we used spatio-temporal luminance noise to mask luminance cues. An adaptive staircase progressed according to observers' performance on a 'go, no-go' task and provided concomitant estimates of threshold and of reaction time. When brief stimuli are confined to chromatic channels and presented at equivalent (threshold) levels and when latency is estimated from visually triggered reaction times, we find that the difference between the L/M-opponent and S-opponent sub-systems is, at most, 20-30 ms.

Color Perception↗
PubMed2004

Oligocone trichromacy: a rare and unusual cone dysfunction syndrome.

AIM: To describe the phenotype of a case series of six patients with oligocone trichromacy. METHODS: The six affected individuals underwent an ophthalmological examination, electrophysiological testing and detailed psychophysical assessment. RESULTS: All six affected patients had a history of moderately reduced visual acuity (6/12 to 6/24) from infancy, not improved by full spectacle correction. They complained of mild photophobia and they were not aware of any colour vision deficiency. They had no nystagmus and fundi were normal. Electrophysiological testing revealed either absent/profoundly reduced cone flicker responses or preserved but delayed and mildly reduced flicker responses. Colour vision was found to be within normal limits, but some patients showed mildly elevated discrimination thresholds along all axes. CONCLUSION: The largest case series to date of patients with oligocone trichromacy is presented. The electrophysiological findings suggest that there may be more than one disease mechanism. The mode of inheritance is likely to be autosomal recessive, and while previous reports have suggested that this disorder is stationary, in one of these families there is clinical evidence of progression.

Adolescent↗
PubMed2003

Colors of primate pelage and skin: objective assessment of conspicuousness.

We present a quantitative means of assessing the conspicuousness of animal coats or other objects in terms of the color vision of each possible observer. We measured reflectance spectra from the fur and skin of many primate species in order to provide an objective survey of the possibilities of pelage coloration found in extant primates. We show that the orange coloration displayed by many platyrrhine and some strepsirhine primates, while being conspicuous to humans, would be cryptic amongst foliage to all males and many females of their own species. In relation to this finding, we briefly review what is known of the color vision of birds that prey on primates, and assess how conspicuous the orange pelage would be to these predators.

Adaptation, Physiological↗
PubMed2003

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

AIM: To describe the phenotype of a three generation consanguineous Pakistani family containing six individuals with autosomal recessive cone dystrophy caused by mutation in GNAT2. METHODS: Five of the six affected individuals underwent an ophthalmological examination, electrodiagnostic testing, fundus photography, autofluorescence imaging, and detailed psychophysical testing. RESULTS: All five examined patients had a history of nystagmus from infancy, photophobia, defective colour vision, and poor visual acuity. The nystagmus in three of the individuals had lessened with time. Fundus examination revealed an abnormal foveal appearance, without frank atrophy or pigmentation. Electroretinography (ERG) revealed absent ISCEV cone flicker ERGs with some preservation of responses to short wavelength stimulation. Rod ERGs showed no definite abnormality, but maximal (mixed rod-cone) response a-wave amplitudes were mildly subnormal. Rudimentary residual colour vision was detected in three individuals. There is clinical evidence of progressive visual acuity reduction in two older individuals. CONCLUSION: Mutation in the alpha-subunit of cone specific transducin (GNAT2) is characterised by an infantile onset cone dystrophy. Some affected individuals may show deterioration of visual acuity with time.

Adult↗
PubMed2002

Signals invisible to the collicular and magnocellular pathways can capture visual attention.

The retinal projection to the superior colliculus is thought to be important both for stimulus-driven eye movements and for the involuntary capture of attention. It has further been argued that eye-movement planning and attentional orienting share common neural mechanisms. Electrophysiological studies have shown that the superior colliculus receives no direct projections from short-wave-sensitive cones (S cones), and, consistent with this, we found that irrelevant peripheral stimuli visible only to S cones did not produce the saccadic distractor effect produced by luminance stimuli. However, when involuntary orienting was tested in a Posner cueing task, the same S-cone stimuli had normal attentional effects, in that they accelerated or delayed responses to subsequent targets. We conclude that involuntary attentional shifts do not require signals in the direct collicular pathway, or indeed the magnocellular pathway, as our S-cone stimuli were invisible to this channel also.

Attention↗
PubMed2002

The origins of the concept of interference.

The concept of interference is implicit in Newton's explanation of the anomaly of the tides in the Gulf of Tongkin, but Thomas Young was the first to generalize the principle and to apply it to compound tides, to auditory beats, and to the colours of thin films. In his Bakerian Lecture, delivered on 12 and 19 November 1801, he was able to accurately derive the wavelengths of particular hues from Newton's measurements of the colours of thin plates. The first printed statement of the generalized principle of interference appears in the Syllabus for his Royal Institution lectures, which was published early in 1802. His celebrated two-slit experiment is first described in his Course of Lectures on Natural Philosophy and the Mechanical Arts of 1807.

England↗
PubMed2001

Fruits, foliage and the evolution of primate colour vision.

Primates are apparently unique amongst the mammals in possessing trichromatic colour vision. However, not all primates are trichromatic. Amongst the haplorhine (higher) primates, the catarrhines possess uniformly trichromatic colour vision, whereas most of the platyrrhine species exhibit polymorphic colour vision, with a variety of dichromatic and trichromatic phenotypes within the population. It has been suggested that trichromacy in primates and the reflectance functions of certain tropical fruits are aspects of a coevolved seed-dispersal system: primate colour vision has been shaped by the need to find coloured fruits amongst foliage, and the fruits themselves have evolved to be salient to primates and so secure dissemination of their seeds. We review the evidence for and against this hypothesis and we report an empirical test: we show that the spectral positioning of the cone pigments found in trichromatic South American primates is well matched to the task of detecting fruits against a background of leaves. We further report that particular trichromatic platyrrhine phenotypes may be better suited than others to foraging for particular fruits under particular conditions of illumination; and we discuss possible explanations for the maintenance of polymorphic colour vision amongst the platyrrhines.

Animals↗
PubMed2001

Is color vision deficiency an advantage under scotopic conditions?

PURPOSE: To examine experimentally whether color vision deficiency confers a selective advantage under scotopic conditions. METHODS: Red-green color-deficient subjects, monochromats, and age-matched color-normal control subjects were examined. In each subject the time course of dark adaptation, scotopic visual field sensitivity, and performance on a scotopic perceptual task were measured. RESULTS: No significant differences were found between red-green color-deficient subjects and control subjects on any of the three tests. Our small sample of monochromats had higher absolute thresholds than the corresponding control subjects, but their performance at the scotopic visual field test and perceptual task did not differ significantly from that of color-normal subjects. CONCLUSIONS: No evidence was found that red-green color deficiency or monochromatism confers a selective advantage under scotopic conditions.

Adolescent↗
PubMed2000

A cluster of single nucleotide polymorphisms in the 5'-leader of the human dopamine D3 receptor gene (DRD3) and its relationship to schizophrenia.

The association between schizophrenia and the Ser9Gly variant of the dopamine D3 receptor gene (DRD3) has been the subject of numerous studies. Under meta-analysis this site, or one or more in linkage disequilibrium with it, appears to contribute a small increase to the relative risk of schizophrenia. In this study, 768 bp of the 5'-leader region of DRD3 mRNA was screened for polymorphisms to assess their contribution to the association of DRD3 with schizophrenia. A cluster of three single nucleotide polymorphisms (SNPs) was identified in tight linkage disequilibrium with each other and with the Ser9Gly polymorphism. One of the 5'-leader SNPs encodes a Lys9Glu variant within a 36 amino acid residue stretch of an upstream open reading frame (uORF). Two common haplotypes are found in the population examined; one is linked to the Ser9 coding variant and the other to the Gly9 variant. A panel of 73 schizophrenic patients and 56 matched controls recruited from the East Anglia region of the United Kingdom was screened for disease association at these sites. Since the 5'-leader and coding sites are in tight disequilibrium, the combined genotype of all 4 sites was scored for each patient. A significant association was seen between disease and the frequency distribution of these genotypes (chi2 = 13.19, d.f. = 3, P = 0.0042; Cochran method for sparse cells applied). A 20% excess of one of the heterozygous genotypes, in which the sequences differ at three of the four SNPs, including Ser9/Gly9 in the receptor and Lys9/Glu9 in the uORF, was found in the patient group. An absence of association of disease with the Ser9Gly polymorphism had previously been reported for this panel. This suggests that these SNPs and the corresponding coding changes may exert a combined or synergistic effect on susceptibility to schizophrenia.

5' Untranslated Regions↗
PubMed2000

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.

OBJECTIVE: To describe the clinical features of autosomal dominant cone-rod retinal dystrophy (CRD) in a British family mapping to chromosome 17p12-p13 (CORD6), with a heterozygous mutation (Glu837Asp/ Arg838Ser) of GUCY2D. DESIGN: A prospective, clinical family survey. PATIENTS: Ten affected members of a family with autosomal dominant CRD. METHODS: Full clinical examinations were undertaken. Selected affected family members underwent electrophysiologic evaluation, scotopic static perimetry, dark adaptometry, and color vision assessment. MAIN OUTCOME MEASURES: Clinical appearance and electroretinographic responses. RESULTS: Typical clinical and electroretinographic features of childhood-onset CRD were recorded. In addition, moderate myopia and pendular nystagmus were seen in affected individuals. Color vision assessment in the youngest affected individual showed no color discrimination on a tritan axis, but retention of significant red-green discrimination. Electronegative electroretinogram responses were seen on electrophysiology in the only young family member examined. CONCLUSIONS: The phenotype associated with GUCY2D CRD is clinically distinct from that associated with other dominant CRD loci. Unusual electroretinographic responses may indicate that this mutation of GUCY2D is associated with early defects in photoreceptor synaptic transmission to second-order neurons.

Adolescent↗
PubMed2000

Catarrhine photopigments are optimized for detecting targets against a foliage background.

The colour vision of many primates is trichromatic, whereas that of all other mammals is thought to be dichromatic or monochromatic. Moreover, the triplets of cone pigments in different catarrhines (Old World apes and monkeys) are strikingly similar in their spectral positions. We ask whether the selective advantage of trichromacy lies in an enhanced ability to find edible leaves or fruit. Further, we ask whether any factor in these two search tasks has constrained the particular set of cone spectral sensitivities observed in all catarrhines. We measured the spectral properties of the natural environments of six primate species in Uganda: Pan troglodytes, Cercopithecus mitis, Cercopithecus ascanius, Lophocebus albigena, Colobus guereza and Colobus badius. We concentrated on the fruit and leaves in their diets and the leaves of the trees that make up the background against which these diet items must be found. We plotted these measured stimuli in colour spaces appropriate for each primate species, and found that both frugivory and folivory are facilitated by the extra dimension of colour vision found in catarrhines but lacking in most other mammals. Furthermore, by treating the task of searching for food as a signal-detection task, we show that, of all possible combinations of cone sensitivities, the spectral positions of the actual primate pigments are optimal for finding fruit or young leaves against the background of mature leaves. This is because the variance of the chromaticities of the mature leaves is minimised in one channel of the primate's colour vision, so allowing anything that is not a mature leaf to stand out.

Algorithms↗
PubMed2000

Chromaticity as a signal of ripeness in fruits taken by primates.

We have measured the reflectance spectra of many samples of fruit eaten by chimpanzees and three frugivorous monkey species. If the fruit are plotted in a colour space appropriate for catarrhine primates, several distinct ripening patterns are evident. The degree of ripeness of many species would be discernible by dichromatic primates, but for most fruit a trichromatic consumer would be at an advantage. However, by calculating which set of possible photopigments would maximise the chromatic distance between samples of each fruit species, we show that the spectral positions of the primate long- (L) and middle-wavelength (M) cone pigments are not optimised for this task.

Animals↗