Isolated absence of optic chiasm revealed by congenital nystagmus, MRI and VEPs.

Congenital nystagmus is a rare condition mainly characterised by rhythmic, conjugate, and horizontal oscillations of both eyes that persist in the vertical gaze. This disorder is usually noticed in the neonatal period and persists throughout life. It can be of sensory origin, associated with low visual acuity of various causes, or of motor origin, caused by a defect in the slow eye movement system.

Fundus photography for measurement of macular pigment density distribution in children.

Purpose: To evaluate a photographic procedure for reflectometry of the topographic distribution of macular pigment density in normal pediatric subjects.

Methods: Digitized blue (480 nm) and green (540 nm) photographic images were aligned and subtracted to generate optical density difference maps. An 8 degrees x 8 degrees area concentric with the fovea was analyzed.

See-saw nystagmus and congenital nystagmus identified in the non-decussating retinal-fugal fiber syndrome.

Purpose: The purpose of the present study was to accurately document the oculomotor misalignments and instabilities associated with the non-decussating retinal-fugal fiber syndrome, a rare inborn, isolated, achiasmatic condition. To date, the achiasmatic syndrome described has thus far been identified in three unrelated females. A comparable achiasmatic condition has also been identified in a canine breed.

Visual function and brain organization in non-decussating retinal-fugal fibre syndrome.

Functional neuroimaging, psychophysical and electrophysiological investigations were performed in a patient with non-decussating retinal-fugal fibre syndrome, an inborn achiasmatic state in which the retinal projections of each eye map entirely to the ipsilateral primary visual cortex. Functional magnetic resonance imaging (fMRI) studies showed that for monocularly presented simple visual stimuli, only the ipsilateral striate cortex was activated. Within each hemisphere's striate cortex, the representation of the two hemifields overlapped extensively.

Motoric response inhibition in finger movement and saccadic eye movement: a comparative study.

Objective: To study cortical potentials associated with suppression of intended motoric actions.

Methods: Electro-encephalographic activity was recorded in a Go/NoGo reaction time paradigm. Subjects viewed computer-generated pacing stimuli, which provided information concerning the time at which an imperative Go/NoGo signal occurred.

Inter-hemispheric lateralization of event related potentials; motoric versus non-motoric cortical activity.

To study hemispheric lateralization of cortical potentials associated with motoric and non-motoric function, cortical activity was recorded accompanying either finger extension or saccadic eye movements in a contingent negative variation (CNV) paradigm. Subjects viewed computer-generated pacing stimuli, presented in the left visual hemi-field, and were instructed to either initiate or inhibit a motor response following an imperative signal. Motoric lateralization was assessed by means of the lateralized readiness potential (LRP).

Selective broad-band spatial frequency loss in contrast sensitivity functions. Comparison with a model based on optical transfer functions.

Purpose: Contrast sensitivity functions (CSFs) were measured under various optical conditions in healthy observers together with CSFs from selected patients. Threshold increases across the spatial frequency range were compared with predictions of a theoretical optical model based on modulation transfer functions.

Methods: Contrast thresholds for various spatial frequencies were determined with a computer-automated method of ascending limits in a control group and a group of patients with various visual pathway diseases ranging from retinal disorders, such as diabetic retinopathy, to neural disorders, such as multiple sclerosis.

Non-decussating retinal-fugal fibre syndrome. An inborn achiasmatic malformation associated with visuotopic misrouting, visual evoked potential ipsilateral asymmetry and nystagmus.

We report a newly identified syndrome in which nasal retinal fibres fail to decussate due to the inborn absence of an optic chiasm. Visual evoked potential (VEP) assessment and neuro-opththalmic evaluation in two unrelated, non-albino children revealed the unusual visual pathway anomaly in the form of misrouted retinal-fugal projections. Monocular VEP responses across the occiput, regardless of stimulus mode (full- or partial-field pattern onset, pattern reversal, luminance flash or high temporal frequency luminance flicker) showed unequivocal evidence of pathological VEP ipsilateral asymmetry.

Electrodiagnosis in paediatric ophthalmogenetics.

In the present overview, practical application of the visual evoked potential (VEP) in paediatric neuro-ophthalmology is described across a wide range of ophthalmogenetic disorders, including albinism, Pelizaeus-Merzbacher disease and spastic paraplegia. The VEP approach is based on a four parameter subdivision of the electrophysiological response which includes, (1) amplitude (microV), (2) latency (ms), (3) waveform (component specificity), and (4) topography (potential distribution across the electrode array). In the case studies presented, evoked potential measures provide clinically useful and even at times invaluable insights concerning the presence, extent and type of visual pathway compromise.

A unique achiasmatic anomaly detected in non-albinos with misrouted retinal-fugal projections.

In mammals with binocular vision, projections of retinal axons to primary retino-recipient nuclei establish a strict visuotopic and eye-segregated arrangement. Normal primate visual pathway organization is characterized by orderly hemiretina separation in which nasal-retinal axons cross at the optic chiasm and project to primary contralateral subcortical and cortical structures while temporal-retinal fibres project ipsilaterally to corresponding visual structures. We report here, in two unrelated children, an unusual visual pathway malformation in which nasal-retinal cortical projections, unable to decussate due to the inborn absence of an optic chiasm, erroneously route ipsilaterally to visual projection targets.

Contrast sensitivity function in Graves' ophthalmopathy and dysthyroid optic neuropathy.

Contrast sensitivity function was measured by a computer automated method on 38 eyes with dysthyroid optic neuropathy and 34 eyes with Graves' ophthalmopathy only. The results were compared with 74 healthy control eyes. Disturbances of contrast sensitivity functions were found in both groups when compared with controls.

Temporal frequency responsivity shows multiple maturational phases: state-dependent visual evoked potential luminance flicker fusion from birth to 9 months.

Maturation of temporal resolution was investigated in a visual evoked potential study in 77 infants from birth to 9 months of age. Luminance evoked potential measures in response to homogeneous sinusoidal flickering light (1-64 Hz) were recorded under behavioral state-defined conditions. Behavioral state was determined by direct observation and by polygraphic recording of the electroencephalogram (EEG), eye movements (EOG), muscle activity (EMG), heart rate (ECG), and respiration.

Visual evoked potential characteristics and early diagnosis of Pelizaeus-Merzbacher disease.

Objective: Early diagnosis of Pelizaeus-Merzbacher disease; assessment of disease progression.

Design: Pediatric neuro-ophthalmology evaluation of visual function with pattern and luminance visual evoked potentials; behavioral state assessment; electrophysiological diagnostic test; baseline estimates at the age of 11 weeks; 1-year follow-up.

Setting: University hospital electrodiagnostic vision research laboratory.

Refinement of the localization of the X-linked ocular albinism gene.

Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. We present additional genetic mapping data concerning X-linked ocular albinism that suggests the consensus order Xpter-STS-DXS237-KAL-(OA1, DXS143)-DXS85-DXS16-Xcen.

Visual evoked response asymmetry only in the albino member of a family with congenital nystagmus.

Purpose: To examine the purported relationship between visual fiber misrouting and congenital nystagmus (CN) by studying a family containing members with either hereditary CN alone or in conjunction with albinism.

Methods: Eight relatives in three generations of a family with two genetic disorders (congenital nystagmus [CN] and albinism) underwent complete ophthalmologic examination and visual evoked potential (VEP) assessment of visual pathway organization using a luminance flash and checkerboard pattern onset/offset stimulus paradigm. Age-matched controls patients (albino, CN, or normal) corresponding to the three affected family members underwent the same procedure.

Detection and maturation of VEP albino asymmetry: an overview and a longitudinal study from birth to 54 weeks.

The genetic anomaly in albinism prevents adequate melanin metabolism within the fetal eye cup and stalk. This results in severe disruption of pre- and postnatal retinal development and the condition of abnormal temporal retinal projections. The obligate misrouting of retinal-geniculate-cortical projections in albinism can be detected in the topographical representation across the occiput of the visual evoked potential (VEP).

A practical approach to albino diagnosis. VEP misrouting across the age span.

In addition to the genetic heterogeneity in albinism, widespread clinical heterogeneity frequently impedes albino detection and differential diagnosis. Further, several auxiliary ocular and/or cutaneous manifestations of this inherited error of pigmentary metabolism are neither pre-requisite nor specific to the albino condition. However, one feature that is specific to albinism regardless of genotype or phenotype is a unique pattern of abnormal visual pathway organization.

Detection of optic pathway misrouting in the human albino neonate.

The diagnosis of albinism is indicated by the presence of visual pathway misrouting in which temporal retinal fibers erroneously decussate at the optic chiasm disrupting the normal topographical distribution of retinal geniculate-cortical projections. Detection of misrouted fibers is effected by non-invasive electrophysiological assessment of the topographical representation of the visual evoked potential (VEP) following full field monocular stimulation. By combining appropriate state defined neonatal recording procedures with the albino VEP test paradigm, the presence of aberrant optic pathway projections was detected in a five-day-old full-term infant.

VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study.

Visual evoked potential (VEP) asymmetry in which a preponderance of nasal and temporal retina afferents project to the contralateral hemisphere after full-field monocular stimulation is considered specific to albinism. Some reports, however, suggest that patients with congenital nystagmus (CN) share the albino-like visual pathway anomaly. To examine the clinical specificity of albino misrouting, VEP topography was assessed in ten patients with congenital nystagmus and in ten age-matched albino patients.

Effects of behavioural state on visual processing in neonates.

Assessment of visual capacity in full-term neonates as a function of behavioural state was investigated with the luminance flash visual evoked potential (VEP). Infant state (quiet sleep, active sleep, quiet wakefulness, active wakefulness) was determined by behavioural observation and polygraphic recording of EEG, eye movements, electrocardiogram, electromyogram and respiration. VEPs were recorded across the sleep/waking cycle only under carefully defined state conditions.

Contrast sensitivity and the diagnosis dysthyroid optic neuropathy.

Contrast sensitivity function (CSF) was investigated in 19 patients (34 eyes) with clinical signs and symptoms of dysthyroid optic neuropathy (DON). CSF was disturbed in 33 eyes and was shown to improve after orbital decompression. These results indicate that the CSF may be a useful supplementary test of visual function in patients with DON.

Visual evoked potentials in Prader-Willi syndrome.

Oculocutaneous, electrophysiological, and cytogenetic factors were evaluated in 14 patients with Prader-Willi syndrome and in three controls, two albinos and a normal observer. In a substantial number of PW patients chromosomal anomalies, particularly deletions of the long arm of chromosome 15 as well as hypopigmentation of hair, skin, and eye have been identified. In the genetic condition of albinism, hypopigmentation related to neural ectoderm derivatives is associated with reduced visual acuity, foveal hypoplasia, and aberrant retinogeniculocortical projections.

Global stereopsis in human albinos.

The presence of global stereopsis was examined in 18 clinically diagnosed albinos; four non-albino controls were also tested including two observers with congenital nystagmus. Stereopsis was evaluated with standard clinical stereo tests and with TV generated random dot stereograms. The latter test involved electrophysiological measures of vertical eye movement tracking in response to a stimulus target.