Publications by authors named "Alki Liasis"

35 Publications

Quantitative MRI demonstrates abnormalities of the third ventricle subventricular zone in neurofibromatosis type-1 and sporadic paediatric optic pathway glioma.

Neuroimage Clin 2020 28;28:102447. Epub 2020 Sep 28.

Developmental Imaging and Biophysics Section, Developmental Neurosciences, University College London Great Ormond Street Institute of Child Health, London, UK.

Background: The subventricular zone of the third ventricle (TVZ) is a germinal stem cell niche, identified as the possible location of optic pathway glioma (OPG) cell origin. Paediatric OPGs are predominantly diagnosed as low-grade astrocytomas, which are either sporadic or are associated with neurofibromatosis type-1 (NF1). These tumours often cause a significant impairment to visual acuity (VA). Infiltrative/invasive tumour activity is associated with increased apparent diffusion coefficient (ADC) and cerebral blood flow (CBF). This study aimed to determine whether TVZ imaging features differed between sporadic-OPG, NF1-OPG and controls, and whether the ADC and CBF profile at the germinal stem cell niche (the TVZ) correlated with the primary outcome of VA.

Methods: ADC and CBF MRI data were acquired from 30 paediatric OPG patients (median age 6 years; range 8 months-17 years), along with VA measurements, during clinical surveillance of their tumour. Values for mean ADC and maximum CBF were measured at the TVZ, and normalized to normal-appearing grey matter. These values were compared between the two OPG groups and the healthy control subjects, and multivariate linear regression was used to test the linear association between these values and patient's VA.

Results: In the TVZ, normalized mean ADC was higher in NF1-associated OPG patients (N = 15), compared to both sporadic OPG patients (N = 15; p = 0.010) and healthy controls (N = 14; p < 0.001). In the same region, normalized maximum CBF was higher in sporadic OPG patients compared to both NF1-OPG patients (p = 0.016) and healthy controls (p < 0.001). In sporadic OPG patients only, normalized mean ADC in the TVZ was significantly correlated with visual acuity (R = 0.41, p = 0.019). No significant correlations were found between TVZ CBF and ADC values and visual acuity in the NF1-associated OPG patients.

Conclusion: Quantitative MRI detects TVZ abnormalities in both sporadic and NF1-OPG patients, and identifies TVZ features that differentiate the two. TVZ features may be useful MRI markers of interest in future predictive studies involving sporadic OPG.
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http://dx.doi.org/10.1016/j.nicl.2020.102447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554210PMC
September 2020

Clinical use of the Insight Inventory in cerebral visual impairment and the effectiveness of tailored habilitational strategies.

Dev Med Child Neurol 2020 11 8;62(11):1324-1330. Epub 2020 Aug 8.

UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

Aim: To investigate the utility of the Insight Inventory (a structured clinical inventory completed by caregivers) for assessment of children with cerebral visual impairment; and to investigate effectiveness of tailored habilitational strategies derived from the responses to the Insight Inventory.

Method: Fifty-one eligible children (26 males, 25 females; mean age 9y 5mo, SD 3y, range 5-16y) were recruited from Great Ormond Street Hospital, London. They underwent baseline assessment including neuro-ophthalmological and neuropsychological evaluations, and parent- and child-reported ratings on a questionnaire-based measure of quality of life. Parents also completed the Insight Inventory. On the basis of responses to the Inventory, families received individualized habilitational strategies. Follow-up assessments 6 months later included repeating the Insight Inventory and quality of life questionnaires.

Results: Correlations were found between the Insight Inventory and the Wechsler Intelligence Scale for Children, Fourth Edition, the Beery-Buktenica Test of Visual-Motor Integration, and the Benton Facial Recognition Test, suggesting that the Insight Inventory is an effective tool to estimate visual-perceptual difficulties. At 6 months follow-up, caregiver reports indicated significant improvements in the quality of life of children below the age of 12 years.

Interpretation: The Insight Inventory is a simple questionnaire which covers practical aspects of cognitive visual function in everyday life. It provides in-depth information about the aspects that children struggle with. It can also guide programmes of individualized habilitation strategies, which may enhance the quality of life of younger children.

What This Paper Adds: Questionnaire scores demonstrate biologically plausible correlations with formal neuropsychological tests of visual function. After administration of matched practical habilitational strategies, younger children showed improvement in quality of life and functional vision scores.
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http://dx.doi.org/10.1111/dmcn.14650DOI Listing
November 2020

Altered visual population receptive fields in human albinism.

Cortex 2020 07 6;128:107-123. Epub 2020 Apr 6.

Institute of Child Health, University College London, London, UK.

Albinism is a congenital disorder where misrouting of the optic nerves at the chiasm gives rise to abnormal visual field representations in occipital cortex. In typical human development, the left occipital cortex receives retinal input predominantly from the right visual field, and vice-versa. In albinism, there is a more complete decussation of optic nerve fibers at the chiasm, resulting in partial representation of the temporal hemiretina (ipsilateral visual field) in the contralateral hemisphere. In this study, we characterize the receptive field properties for these abnormal representations by conducting detailed fMRI population receptive field mapping in a rare subset of participants with albinism and no ocular nystagmus. We find a nasal bias for receptive field positions in the abnormal temporal hemiretina representation. In addition, by modelling responses to bilateral visual field stimulation in the overlap zone, we found evidence in favor of discrete unilateral receptive fields, suggesting a conservative pattern of spatial selectivity in the presence of abnormal retinal input.
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http://dx.doi.org/10.1016/j.cortex.2020.03.016DOI Listing
July 2020

Microstructural Investigations of the Visual Pathways in Pediatric Epilepsy Neurosurgery: Insights From Multi-Shell Diffusion Magnetic Resonance Imaging.

Front Neurosci 2020 8;14:269. Epub 2020 Apr 8.

Developmental Imaging and Biophysics Section, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

Background: Surgery is a key approach for achieving seizure freedom in children with focal onset epilepsy. However, the resection can affect or be in the vicinity of the optic radiations. Multi-shell diffusion MRI and tractography can better characterize tissue structure and provide guidance to help minimize surgical related deficits. Whilst in adults tractography has been used to demonstrate that damage to the optic radiations leads to postoperative visual field deficits, this approach has yet to be properly explored in children.

Objective: To demonstrate the capabilities of multi-shell diffusion MRI and tractography in characterizing microstructural changes in children with epilepsy pre- and post-surgery affecting the occipital, parietal or temporal lobes.

Methods: Diffusion Tensor Imaging and the Spherical Mean Technique were used to investigate the microstructure of the optic radiations. Furthermore, tractography was used to evaluate whether pre-surgical reconstructions of the optic radiations overlap with the resection margin as measured using anatomical post-surgical T1-weighted MRI.

Results: Increased diffusivity in patients compared to controls at baseline was observed with evidence of decreased diffusivity, anisotropy, and neurite orientation distribution in contralateral hemisphere after surgery. Pre-surgical optic radiation tractography overlapped with post-surgical resection margins in 20/43 (46%) children, and where visual data was available before and after surgery, the presence of overlap indicated a visual field deficit.

Conclusion: This is the first report in a pediatric series which highlights the relevance of tractography for future pre-surgical evaluation in children undergoing epilepsy surgery and the usefulness of multi-shell diffusion MRI to characterize brain microstructure in these patients.
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http://dx.doi.org/10.3389/fnins.2020.00269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158873PMC
April 2020

Serial, Visually-Evoked Potentials for the Assessment of Visual Function in Patients with Craniosynostosis.

J Clin Med 2019 Sep 27;8(10). Epub 2019 Sep 27.

Department of Ophthalmology, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, UPMC Eye Center, Pittsburgh, PA 15201, USA.

This study aimed to evaluate the effect of craniofacial surgical intervention on the visual pathway's function by comparing pre- to post-operative patterned, visually-evoked potentials (pVEP). A retrospective review was conducted on craniosynostosis patients who had pre- and post-craniofacial surgery pVEP testing. The pVEP measured grade in terms of amplitude latency and morphology of the waveforms. The pre- and post-operative results were compared. The study identified 63 patients (mean age at preoperative pVEP of 16.9 months). Preoperatively, 33 patients (52.4%) had abnormal pVEP. Nine patients had evidence of intracranial hypertension, and of those, eight (88.9%) had abnormal pVEP. Within 6 months postoperatively, 24 of 33 patients (72.7%) with abnormal preoperative pVEP developed normal postoperative pVEP, while all 30 patients with normal preoperative VEP maintained their normal results postoperatively. Significant improvements in pVEP latency in patients with broad or delayed latency waveforms was evident for subjects with preoperative grades 2-4 (grade 2, = 0.015; grade 3, = 0.029; grade 4; = 0.007), while significant postoperative increase in amplitude was significant for patients with abnormally low amplitude grade 3 and 5 waveforms (grade 3, = 0.011; grade 5, = 0.029). Serial pVEP testing represents a useful tool for the early detection of visual pathway dysfunction and follow up visual pathway function in craniosynostosis. Surgical intervention for craniosynostosis can result in the reversal of preoperative pVEP abnormalities seen in these patients, resulting in the normalization of the pVEP waveform, amplitude and latency, depending on the preoperative pVEP abnormality.
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http://dx.doi.org/10.3390/jcm8101555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6832611PMC
September 2019

Serial Visual Evoked Potentials in Patients with Craniosynostosis and Invasive Intracranial Pressure Monitoring.

Plast Reconstr Surg 2019 09;144(3):446e-452e

From the Department of Plastic Surgery, Cleft-Craniofacial Center, the Department of Ophthalmology, UPMC Eye Center, and the Department of Neurosurgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center; and the Plastic Surgery Department, Cleft and Craniofacial Unit, Sohag University Hospital.

This study aimed to detect the ability of pattern visual evoked potentials to detect visual pathway dysfunction in a cohort of patients with craniosynostosis who also had invasive intracranial pressure measurement. A retrospective review was conducted on craniosynostosis patients who had invasive intracranial pressure measurement and at least one pattern visual evoked potentials test. Reversal pattern visual evoked potentials were performed with both eyes open. Thirteen patients met the inclusion criteria (mean age at intracranial pressure measurement, 5.7 years). Seven patients had raised intracranial pressure, and of these, five (71.4 percent) had abnormal or deteriorated pattern visual evoked potentials parameters on serial testing, whereas all patients (100 percent) with normal intracranial pressure had normal pattern visual evoked potentials amplitude and latency. Four of the five patients (80 percent) with raised intracranial pressure and abnormal pattern visual evoked potentials did not show evidence of papilledema. The mean latency in patients with raised intracranial pressure (118.7 msec) was longer than in those with normal intracranial pressure (108.1 msec), although it did not reach statistical significance (p = 0.09), whereas the mean amplitude in patients with raised intracranial pressure (12.4 µV) was significantly lower than in patients with normal intracranial pressure (23.3 µV) (p = 0.03). The authors' results showed that serial pattern visual evoked potentials testing was able to detect visual pathway dysfunction resulting from raised intracranial pressure in five of seven craniosynostosis patients, and of these five patients, 80 percent had no evidence of papilledema, demonstrating the utility of serial pattern visual evoked potentials in follow-up of the visual function in craniosynostosis patients. CLINICAL QUESTION/LEVEL OF EVIDENCE:: Diagnostic, II.
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http://dx.doi.org/10.1097/PRS.0000000000005935DOI Listing
September 2019

Visual electrodiagnostics and eye movement recording - World Society of Pediatric Ophthalmology and Strabismus (WSPOS) consensus statement.

Indian J Ophthalmol 2019 Jan;67(1):23-30

Akron Children's Hospital, Akron, USA.

Visual electrodiagnostics and eye movement recording are important additional clinical tools in evaluation, diagnosing and management of ophthalmic and neurological disorders. Due to their objectiveness and non-invasiveness they can play an important role in pediatric ophthalmology. The WSPOS (World Society of Pediatric Ophthalmology and Strabismus) consensus statement gives insight into basic principles and highlights the clinical application of both visual electrodiagnostic tests and eye movement recording.
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http://dx.doi.org/10.4103/ijo.IJO_1103_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324125PMC
January 2019

ERGs on the brain: the benefits of simultaneous flash retinal and cortical responses in paediatric cerebral visual impairment.

Doc Ophthalmol 2018 Jun 3;136(3):223-227. Epub 2018 May 3.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1N 3JH, UK.

Purpose: To highlight the importance of simultaneous flash electroretinogram (ERG) and visual evoked potential (VEP) recording to differentiate a true flash VEP response from an artefact caused by the intrusion of the ERG on a mid-frontal reference electrode in cases of severe cerebral visual impairment (CVI).

Methods: We report an observational case series of four children with severe CVI who underwent simultaneous flash ERG and VEP recordings. Flash VEPs from Oz-Fz and lower lid skin ERGs referred to Fz were recorded simultaneously to Grass intensity setting 4 flash stimulation.

Results: In all cases, atypical, but reproducible VEPs were evident. Comparison of the timing and waveform of the VEPs and ERGs showed the occipital responses were inverted ERGs and no true flash VEP was evident.

Conclusions: While ISCEV and neurophysiology standards do not require the simultaneous recording of the flash ERG with the VEP, these cases highlight the usefulness of this non-invasive technique particularly in suspected paediatric cerebral visual impairment to differentiate a true VEP from an artefact caused by ERG contamination.
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http://dx.doi.org/10.1007/s10633-018-9631-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061114PMC
June 2018

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.

Ophthalmology 2018 06 3;125(6):894-903. Epub 2018 Feb 3.

Moorfields Eye Hospital, London, United Kingdom; University College London Institute of Ophthalmology, University College London, United Kingdom. Electronic address:

Purpose: To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults and children.

Design: Retrospective case series.

Participants: Patients with mutations in CEP290 identified at a single UK referral center.

Methods: Review of case notes and results of retinal imaging (color fundus photography, fundus autofluorescence [FAF] imaging, OCT), electrophysiologic assessment, and molecular genetic testing.

Main Outcome Measures: Molecular genetic testing, clinical findings including visual acuity and retinal imaging, and electrophysiologic assessment.

Results: Forty patients with LCA-CEP290 were identified. The deep intronic mutation c.2991+1655 A>G was the most common disease-causing variant (23/40 patients) identified in the compound heterozygous state in 20 patients (50%) and homozygous in 2 patients (5%). Visual acuity (VA) varied from 6/9 to no perception of light, and only 2 of 12 patients with longitudinal VA data showed deterioration in VA in their better-seeing eye over time. A normal fundus was found at diagnosis in younger patients (mean age, 1.9 years), with older patients showing white flecks (mean age, 5.9 years) or pigmentary retinopathy (mean age, 21.7 years). Eleven of 12 patients (92%) with OCT imaging had preservation of foveal architecture. Ten of 12 patients (83%) with FAF imaging had a perifoveal hyperautofluorescent ring. Having 2 nonsense CEP290 mutations was associated with worse final VA and the presence of nonocular features.

Conclusions: Detailed analysis of the clinical phenotype of LCA-CEP290 in a large cohort confirms that there is a window of opportunity in childhood for therapeutic intervention based on relative structural preservation in the central cone-rich retina in a significant proportion of patients, with the majority harboring the deep intronic variant potentially tractable to several planned gene editing approaches.
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http://dx.doi.org/10.1016/j.ophtha.2017.12.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974693PMC
June 2018

Early Onset Sixth-Nerve Palsy with Eccentric Fixation.

Am Orthopt J 2017 Jan;67(1):72-79

From the Eye Center, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania;

Purpose: To report four cases of early onset sixth-nerve palsy all of whom had eccentric fixation.

Methods: A retrospective case note review was undertaken of all cases presenting to the senior author's private and NHS practice with early onset sixth palsy between 2006 and 2012. As well as demographic information, details of ophthalmic, orthoptic, electrophysiological examinations, and radiological investigations that were extracted from the records.

Results: Four children with unilateral or asymmetric early onset sixth-nerve palsy were identified, of which three were congenital. All four had MRI and only one had a normal MRI. Age at presentation ranged from 14-42 months, but all four had marked esotropia and poor visual acuities in the worst affected eye with eccentric fixation, which became more easily or only noticeable after surgical correction. Three patients with congenital sixth-nerve palsy underwent vertical muscle transposition with Botulinum Toxin A (BTXA) to the ipsilateral medial rectus, and two of these patients also had Foster sutures to the transposed vertical muscles. The fourth patient had unilateral medial rectus recession and lateral rectus resection. The mean preoperative measurement was 55 ET (range 50-60), and the mean postoperative measurement was 11 ET (range 16XT-25ET) at near, and 2 XT (range 15XT-14ET) at distance.

Conclusions: We speculate that early onset paralytic strabismus due to congenital sixth-nerve palsy results in an inability to cross fixate which results in the development of eccentric fixation. Attempts to use reverse occlusion to negate the eccentric fixation failed. We therefore recommend early surgery for this condition to avoid this sequelae.
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http://dx.doi.org/10.3368/aoj.67.1.72DOI Listing
January 2017

Reduction of severe visual loss and complications following intra-arterial chemotherapy (IAC) for refractory retinoblastoma.

Br J Ophthalmol 2017 12 21;101(12):1704-1708. Epub 2017 Apr 21.

Retinoblastoma Unit, Barts Health NHS Trust, London, UK.

Background: Intra-arterial chemotherapy (IAC) for retinoblastoma has been documented as causing visual loss and ocular motility problems. A lack of safety data has precluded its acceptance in all centres.

Methods: Retrospective cohort study of patients with retinoblastoma from 2013 to 2015 who had a healthy foveola and relapsed following systemic chemotherapy. All required IAC. The correlation of complications with doses of melphalan +/- topotecan used and putative catheterisation complications was assessed. Ocular complications were determined using vision, macular (including pattern visual evoked potentials (PVEPs)), retinal electroretinograms (ERGs) and ocular motility functions. Efficacy (tumour control) was also assessed.

Results: All eyes had age appropriate doses of melphalan with five having additional doses of topotecan. Severe physiological reactions requiring adrenaline were seen in six patients during the catheterisation procedure. Difficulty was documented in accessing the ophthalmic artery in 7/27 catheterisations. The median/mean number of courses of chemotherapy was three. No child had severe visual loss as assessed by age appropriate tests (median follow-up 20.9 months, range 3.7-35.2 months). One child had nasal choroidal ischaemia and a sixth nerve palsy. Post-IAC PVEPs were performed in eight and reported as normal. All post-IAC ERGs were normal apart from one (total dose 20 mg melphalan 0.8 mg topotecan). Tumour control was achieved in six of nine cases.

Conclusion: The proportion of visual and ocular motility complications may be reduced by providing age-adjusted doses of melphalan. Dose rather than complications from catheterisation is the most important risk factor for ocular injury.
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http://dx.doi.org/10.1136/bjophthalmol-2017-310294DOI Listing
December 2017

Trans-synaptic Retrograde Degeneration Following Hemispherectomy in Childhood.

Neuroophthalmology 2017 Apr 15;41(2):103-107. Epub 2017 Feb 15.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children , London, United Kingdom.

Trans-synaptic retrograde degeneration (TRD) in the human visual system has been established. However there are few studies demonstrating macular thinning of the Retinal Ganglion cell Layer and/or Inner Plexiform layer (RGCL-IPL), corresponding to an acquired homonymous hemianopia. We report a 17 year old with a homonymous hemianopia, secondary to a hemispherectomy for intractable epilepsy. Three years following hemispherectomy, Optical Coherence Tomography (OCT) revealed evidence of TRD, corresponding to his complete homonymous hemianopia. Macular maps of the RGCL-IPL thickness provides useful additional information to measurements of optic nerve Retinal Nerve Fibre Layer Thickness (RNFL) in identifying TRD in acquired homonymous hemianopia.
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http://dx.doi.org/10.1080/01658107.2016.1276935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5354094PMC
April 2017

Visual Function 20 Years After Childhood Hemispherectomy for Intractable Epilepsy.

Am J Ophthalmol 2017 May 22;177:81-89. Epub 2017 Feb 22.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, United Kingdom; Institute of Child Health, University College London, London, United Kingdom. Electronic address:

Purpose: To investigate visual function in adults post hemispherectomy in childhood.

Design: Noncomparative case series.

Methods: All participants underwent visual acuity, binocular function, visual field, optical coherence tomography (OCT) of the retinal nerve fiber layer (RNFL), and monocular pattern reversal visually evoked potentials (prVEP).

Participants: Six adults who had a hemispherectomy in childhood (median 21.5 years postoperative).

Main Outcome Measures: Comparison was made of visual acuity, visual field height, global RNFL thickness, and prVEP amplitude evoked by full- and half-field stimulation. Comparison of the eye ipsilateral to the side of surgery to the contralateral eye was achieved employing paired t tests to the visual function measures.

Results: All participants had homonymous hemianopia. The residual seeing visual field was constricted in all cases when compared with normative data despite crossing the midline into the blind hemifield in 11 of 12 eyes. This observation was supported by prVEP to stimuli presented in the blind half field. The height of the visual field was smaller in the eye contralateral to the side of surgery compared with the ipsilateral side (P = .047). Visual acuity and RNFL thickness also showed greater diminution in the contralateral eye (P = .040 and P = .0004). Divergent strabismus was found in 4 participants with greater field loss.

Conclusions: Adults post hemispherectomy in childhood may have better visual function in the eye ipsilateral to the side of the hemispherectomy compared with the contralateral eye. Possible mechanisms of the interocular difference are discussed. Though visual fields and prVEP responses demonstrate evidence of reorganization into the blind half field, they also reveal significant unexpected constriction of the functional field.
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http://dx.doi.org/10.1016/j.ajo.2017.02.014DOI Listing
May 2017

Multichannel visual evoked potentials in the assessment of visual pathways in children with marked brain abnormalities.

J AAPOS 2017 02 9;21(1):52-56. Epub 2017 Jan 9.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, United Kingdom. Electronic address:

Purpose: To demonstrate how multichannel visual evoked potentials (VEPs) can provide quantitative measures of visual function in children with marked cortical anatomy abnormalities.

Methods: Four children with marked brain pathology (2 holoprosencephaly, 2 giant interhemispheric cysts with hydrocephalus) underwent pattern reversal and flash VEP recordings from 16 equally distributed electrodes. Voltage maps of the major VEP components were constructed, and their distributions were compared to the magnetic resonance imaging (MRI) findings.

Results: No reproducible responses were evident in 1 case, and responses were present, but, as expected based on the MRI finding, not over the occipital electrodes in 3 cases. Thus, the standard clinical VEP electrode placement would not have detected responses. The distribution of responses during monocular testing obtained in 2 cases suggested normal decussation of the visual pathways at the chiasm, and voltage mapping indicated which part of the abnormally positioned brain tissue is functional visual cortex.

Conclusions: In children with markedly abnormal brain anatomy, multichannel VEP recordings can provide quantifiable measures of visual pathway function detected in atypical locations. VEPs provide a quantifiable measure of visual function that could be used to assist in determining visual acuity levels, and offered a baseline for monitoring in the context of raised intracranial pressure. These recordings were also able to identify functional anatomical structures that were not apparent on MRI. In a clinical setting, the use of additional recordings from nonstandard electrode placement based on the MRI findings is suggested.
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http://dx.doi.org/10.1016/j.jaapos.2016.10.003DOI Listing
February 2017

Visual mismatch negativity to masked stimuli presented at very brief presentation rates.

Exp Brain Res 2017 02 3;235(2):555-563. Epub 2016 Nov 3.

Department of Psychology, University of Westminster, 115 New Cavendish Street, London, W1W 6UW, UK.

Mismatch negativity (MMN) has been characterised as a 'pre-attentive' component of an event-related potential (ERP) that is related to discrimination and error prediction processes. The aim of the current experiment was to establish whether visual MMN could be recorded to briefly presented, backward and forward masked visual stimuli, given both below and above levels of subjective experience. Evidence of visual MMN elicitation in the absence of the ability to consciously report stimuli would provide strong evidence for the automaticity of the visual MMN mechanism. Using an oddball paradigm, two stimuli that differed in orientation from each other, a + and an ×, were presented on a computer screen. Electroencephalogram (EEG) was recorded from nine participants (six females), mean age 21.4 years. Results showed that for stimuli that were effectively masked at 7 ms presentation, there was little variation in the ERPs evoked to standard and deviant stimuli or in the subtraction waveform employed to delineate the visual MMN. At 14 ms stimulus presentation, when participants were able to report stimulus presence, an enhanced negativity at around 175 and 305 ms was observed to the deviant and was evident in the subtraction waveform. However, some of the difference observed in the ERPs can be attributed to stimulus characteristics, as the use of a 'lonely' deviant protocol revealed attenuated visual MMN components at 14 ms stimulus presentation. Overall, results suggest that some degree of conscious attention is required before visual MMN components emerge, suggesting visual MMN is not an entirely pre-attentive process.
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http://dx.doi.org/10.1007/s00221-016-4807-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5272894PMC
February 2017

THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE.

Retina 2016 Mar;36(3):629-38

*Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, United Kingdom; †Applied Vision Research Centre, City University London, London, United Kingdom; and ‡Cardiology, Great Ormond Street Hospital and University College London Heart Hospital, London, United Kingdom.

Purpose: Danon disease is caused by mutations in the lysosome-associated membrane protein-2 gene (LAMP2). In the eye, LAMP2 is expressed only in the retinal pigment epithelium. This study aimed to investigate the previously unreported impact of LAMP2 mutations on the electrooculogram generated by the retinal pigment epithelium.

Methods: Four members of a family with Danon disease were examined. All have mutations in c294G > A, of the LAMP2 gene on Xq24, by which no, or aberrant, protein will be formed. Electrooculograms to International Society for the Clinical Electrophysiology of Vision (ISCEV) standards were recorded with full-field electroretinography, Goldmann kinetic visual fields, and spectral optical coherence tomography with fundus autofluorescence imaging.

Results: Electrooculogram amplitude ratios of light rise:dark trough, the Arden index, fell at low-normal limits (range: 1.68-3.94) but misrepresent retinal pigment epithelium health, because the absolute dark trough voltages were abnormally low (median: 140 μV, range: 72-192 μV) as were the light rise amplitudes (median: 297 μV, range: 198-366 μV), and full-field electroretinograms were normal. Hyperfundus autofluorescence and hypofundus autofluorescence changes became more confluent and florid with increasing age of female patients. Goldmann visual field testing showed constriction of the central field.

Conclusion: Low electrooculogram voltages indicate that the retinal pigment epithelium is unable to maintain its tight junctions in Danon disease.
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http://dx.doi.org/10.1097/IAE.0000000000000736DOI Listing
March 2016

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Hum Mol Genet 2014 May 9;23(10):2511-26. Epub 2014 Jan 9.

Ulverscroft Vision Research Group.

Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL2 gene in members of a consanguineous family affected with non-syndromic ocular coloboma variably affecting the iris and retina. This mutation, c.85G>T, introduces a premature termination codon (p.Glu29*) predicted to truncate the SALL2 protein so that it lacks three clusters of zinc-finger motifs that are essential for DNA-binding activity. This discovery identifies SALL2 as the third member of the Drosophila homeotic Spalt-like family of developmental transcription factor genes implicated in human disease. SALL2 is expressed in the developing human retina at the time of, and subsequent to, optic fissure closure. Analysis of Sall2-deficient mouse embryos revealed delayed apposition of the optic fissure margins and the persistence of an anterior retinal coloboma phenotype after birth. Sall2-deficient embryos displayed correct posterior closure toward the optic nerve head, and upon contact of the fissure margins, dissolution of the basal lamina occurred and PAX2, known to be critical for this process, was expressed normally. Anterior closure was disrupted with the fissure margins failing to meet, or in some cases misaligning leading to a retinal lesion. These observations demonstrate, for the first time, a role for SALL2 in eye morphogenesis and that loss of function of the gene causes ocular coloboma in humans and mice.
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http://dx.doi.org/10.1093/hmg/ddt643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990155PMC
May 2014

Visual outcomes following intraophthalmic artery melphalan for patients with refractory retinoblastoma and age appropriate vision.

Br J Ophthalmol 2013 Nov 13;97(11):1464-70. Epub 2013 Sep 13.

Retinoblastoma Unit, Royal London Hospital, , London, UK.

Background/aims: To determine the frequency and cause of visual loss following intra-arterial melphalan (IAM) in patients with retinoblastoma with age appropriate vision.

Methods: Assessment of patients with refractory retinoblastoma that had undergone systemic chemotherapy, with or without local treatment, and were subsequently treated with IAM. Eyes of patients with a healthy foveola were assessed. The main outcome measures included visual, macular (including Pattern Visual Evoked Potentials and Fundus Fluorescein Angiography) and retinal functions (Electroretinograms).

Results: Five of twelve eyes (42%) demonstrated severe visual loss following IAM at last follow-up (median 21 months). This was due to either retinal detachment (1 eye, 20%) or choroidal ischaemia involving the foveola (4 eyes, 80%). All 3 eyes that had technical difficulties or vasospasm during catheterisation suffered visual loss. 8 out of 10 eyes that had a non-age adjusted dose of melphalan suffered visual loss. Electroretinograms post-IAM deteriorated in 4 of 8 eyes (50%) and Pattern Visual Evoked Potentials deteriorated in 3 (37%), though only one of these 3 showed concomitant visual acuity loss.

Conclusions: Structural and vascular damage to the foveola limited visual acuity. Complications associated with catheterisation and high doses of melphalan may be contributory factors to visual morbidity. Although visual loss is described, no patient developed metastases and most retained good vision.
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http://dx.doi.org/10.1136/bjophthalmol-2013-303694DOI Listing
November 2013

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

J Inherit Metab Dis 2013 Nov 22;36(6):1039-47. Epub 2013 Feb 22.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, UCL ICH, Great Ormond Street, London, WC1N 3JH, UK,

The congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2-CDG, who showed preserved photoreceptor function, but profound deficits of the 'on-pathway' in the retina. This localises the site of early, or initial, retinal dysfunction in PMM2-CDG to the synapse in the outer plexiform layer between bipolar cells, photoreceptors and horizontal cells. We sought wider evidence to support this novel finding by reviewing retrospectively the case notes of eight patients, diagnosed with PMM2-CDG between the ages of 7 months to 16 years. We compared the clinical presentation and electroretinograms, (ERGs), of these patients with the sibling pair. We found that five of eight patients showed characteristic ERG features of on-pathway dysfunction in the form of reduced ERG b-wave amplitude. The remaining three patients had significant photoreceptor dysfunction by the time of ERG recording, and both a- and b-wave amplitudes were markedly attenuated. We conclude that ERG signs of on-pathway dysfunction can be detected in the early stages of PMM2-CDG. Referral for electroretinography evidence of this specific on-pathway deficit, with preservation of oscillatory potentials, can help establish the diagnosis of infants with developmental delay or failure to thrive in whom a glycosylation defect is suspected. Also by increasing our understanding of the interaction of N-glycoproteins at this synapse we may be able to design future therapeutic intervention to prevent or ameliorate the progressive visual loss associated with PMM2-CDG.
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http://dx.doi.org/10.1007/s10545-013-9594-2DOI Listing
November 2013

Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency.

Arch Ophthalmol 2012 Jun;130(6):712-9

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, England.

Objective: To describe novel electroretinographic (ERG) findings associated with congenital disorder of glycosylation due to phosphomannomutase deficiency (PMM2-CDG) (previously known as congenital disorder of glycosylation type 1a).

Methods: Two male siblings with genetically confirmed PMM2-CDG underwent full-field ERG to a range of scotopic and photopic flash luminances that extended the International Society for Clinical Electrophysiology of Vision standard protocol and included scotopic 15-Hz flicker and photopic prolonged on-off stimulation.

Results: Photopic prolonged ERGs were profoundly electronegative with absent b-waves but preserved oscillatory potentials. Prolonged off-responses and off-oscillatory potentials were preserved. Transient full-field photopic ERGs revealed a broad a-wave and narrow b-wave, and the photopic 30-Hz flicker ERG had a sawtooth waveform. The scotopic b-waves of both cases were attenuated to the fifth percentile, whereas scotopic a-wave amplitudes were at the 50th to 75th percentile, giving a reduced a:b ratio. The scotopic a-wave waveform was well defined to bright flash luminance. The number of scotopic oscillatory potentials was preserved, although amplitudes were smaller than average. Scotopic 15-Hz flicker ERGs were evident to a range of flash luminances and showed an expected phase cancellation between -1.5 and -1.0 log scotopic td (troland) • s, but phase increased only for the fast rod pathway.

Conclusions: We find, for the first time to our knowledge, an association of PMM2-CDG with a selective on-pathway dysfunction in the retina. This ERG phenotype localizes the site of retinal dysfunction to the on-bipolar synapse with photoreceptors. Modeling the unusual combination of ERG findings helps our understanding of the role of N -glycosylation at this synapse and provides a focus for future studies of potential intervention.
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http://dx.doi.org/10.1001/archophthalmol.2012.130DOI Listing
June 2012

The reproducibility of binocular pattern reversal visual evoked potentials: a single subject design.

Doc Ophthalmol 2011 Jun 25;122(3):133-9. Epub 2011 Mar 25.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital For Children, London, UK.

This study aimed to investigate the within-participant variability over time of both amplitude and peak latency measures of pattern reversal visual evoked potentials (pVEPs). As a large number of factors are known to contribute to the variability of the pVEPs (such as fixation instability and drowsiness), testing was conducted in controlled conditions with two co-operative participants. PVEPs were recorded during 24 sessions, over an eight-week period using the same equipment and recording settings. The participants viewed a plasma monitor binocularly from a distance of 1 meter. High contrast (97%), black and white checks of side subtense 50', 25', and 12.5' pattern reversed 3/s in a 28 degree test field. The different sized checks were presented in a pseudo-random order. Three runs, each of 100 trials, were acquired to each stimulus from an active electrode placed at Oz referred to aFz. The amplitude of N80-P100 and the latency of P100 were measured. P100 amplitude and latency were stable across sessions and did not depend upon the order of check size presentation. As expected, variation in amplitude was greater than peak latency. The coefficients of variation for different check sizes and participants were 9-14% for pVEP amplitude, but only 1-2% for P100 latency.
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http://dx.doi.org/10.1007/s10633-011-9267-0DOI Listing
June 2011

Visual field loss in children with craniosynostosis.

Childs Nerv Syst 2011 Aug 29;27(8):1289-96. Epub 2011 Jan 29.

The Clinical and Academic Department of Ophthalmology, Great Ormond St Hospital for Children, London, UK.

Aims: To identify visual field deficits in a group of children with syndromic craniosynostosis.

Methods: Kinetic visual field examination and visual evoked potentials (VEPs) were recorded in 16 children with syndromic craniosynostosis as part of their ophthalmic evaluation. VEPs were analyzed for inter-hemispheric asymmetries and component amplitude and latency, while visual fields were analyzed both qualitatively and quantitatively.

Results: All children with craniosynostosis were found to have visual field deficits compared to controls. In the Crouzon group, deficits tended to involve the nasal field, while infero-nasal field deficits were the most consistent finding in children with Apert syndrome. Children with Pfeiffer's demonstrated the greatest deficits, with severe constrictions affecting the whole visual field. VEPs were asymmetrical in four cases while the P100 component was subnormal in ten of the 16 patients for either amplitude and/or latency.

Conclusion: Although we may speculate about the mechanisms that cause visual field deficits, we currently are unable to explain the reason for the differing types and extent of visual field loss in the different syndromic groups. We can conclude that the visual field deficits do indicate previous or ongoing visual dysfunction that cannot be monitored employing central vision tests alone.
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http://dx.doi.org/10.1007/s00381-010-1378-5DOI Listing
August 2011

When do asymmetrical full-field pattern reversal visual evoked potentials indicate visual pathway dysfunction in children?

Doc Ophthalmol 2011 Feb 3;122(1):9-18. Epub 2010 Nov 3.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK.

Our study aimed to find out the association between full-field pattern reversal visual evoked potential (pVEP) transoccipital asymmetries and half-field pVEP transoccipital distributions in children. Over a six-month period, 46 patients (mean age: 9 years 9 months) had both monocular full-field and half-field pVEPs to test checks subtending 50 min of arc in a 35 degree full-field and 0-17.5 degree lateral half-field. Silver-silver chloride electrodes placed at Oz, O1 and O2 were referred to Fz. Monocular full-field data were categorised according to the degree of transoccipital asymmetry. Half-field data were measured and summated to see whether they explained any full-field asymmetry. In this cohort of 46 patients, eight (17%) patients had symmetrically distributed monocular full-field pVEPs for each eye. Four of these patients had normal half-field pVEP distributions for each eye, but the other four showed a half-field deficit in one or both eyes. Of the 38 patients with asymmetrically distributed full-field pVEPs in at least one eye, 17 (44%) patients showed a half-field deficit, 20 (53%) showed responsive, but symmetrically distributed half-field responses, and one patient (3%) showed typical half-field distributions. Half-field pVEPs can help explain full-field asymmetries and should be attempted in any child able to co-operate with testing and in whom visual pathway dysfunction is suspected.
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http://dx.doi.org/10.1007/s10633-010-9250-1DOI Listing
February 2011

Can illusory deviant stimuli be used as attentional distractors to record vMMN in a passive three stimulus oddball paradigm?

Exp Brain Res 2009 Aug 24;197(2):153-61. Epub 2009 Jun 24.

Department of Psychology, University of Westminster, London W1B 2UW, UK.

A passive three stimulus oddball paradigm was used to investigate Visual Mismatch Negativity (vMMN) a component of the Event Related Potential (ERP) believed to represent a central pre-attentive change mechanism. Responses to a change in orientation were recorded to monochrome stimuli presented to subjects on a computer screen. One of the infrequent stimuli formed an illusory figure (Kanizsa Square) aimed to capture spatial attention in the absence of an active task. Nineteen electrodes (10-20 system) were used to record the electroencephalogram in fourteen subjects (ten females) mean age 34.5 years. ERPs to all stimuli consisted of a positive negative positive complex recorded maximally over lateral occipital areas. The negative component was greater for deviant and illusory deviant compared to standard stimuli in a time window of 170-190 ms. A P3a component over frontal/central electrodes to the illusory deviant but not to the deviant stimulus suggests the illusory figure was able to capture attention and orientate subjects to the recording. Subtraction waveforms revealed visual discrimination responses at occipital electrodes, which may represent vMMN. In a control study with 13 subjects (11 females; mean age 29.23 years), using an embedded active attention task, we confirmed the existence of an earlier (150-170 ms) and attenuated vMMN. Recordings from an intracranial case study confirmed separation of N1 and discrimination components to posterior and anterior occipital areas, respectively. We conclude that although the illusory figure captured spatial attention in its own right it did not draw sufficient attentional resources from the standard-deviant comparison as revealed when using a concurrent active task.
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http://dx.doi.org/10.1007/s00221-009-1901-7DOI Listing
August 2009

Sensory function in severe semilobar holoprosencephaly.

Neurocase 2009 19;15(2):110-8. Epub 2009 Jan 19.

Academic and Clinical Department of Ophthalmology, Great Ormond St Hospital for Children, London, UK.

We report a 4-year-old child with severe semi-lobar holoprosencephaly (HPE) not expected to survive after birth. Magnetic resonance imaging (MRI) revealed agenesis of the corpus callosum, absence of the third ventricle, fused thalami and basal ganglia. To investigate sensory function, visual, auditory and somatosensory evoked potential and imaging studies were carried out. The visual response evoked by human face stimuli evoked larger responses over the left side of the holosphere as compared to responses evoked by checkerboard pattern, while auditory evoked potentials were evident over the frontal regions to both pure tones and speech stimuli. No consistent scalp somatosensory evoked potentials were evident. This case demonstrates that electrophysiological measures are able to identify and quantify sensory processing not expected to be present based on the anatomical presentation of the cortex in a child with severe HPE.
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http://dx.doi.org/10.1080/13554790802631936DOI Listing
April 2009

Short report: methodological considerations in recording mismatch negativity in cochlear implant patients.

Cochlear Implants Int 2004 Jun;5(2):76-80

Cochlear Implant Programme, Great Ormond Street Hospital, London WC1N 3JH.

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http://dx.doi.org/10.1179/cim.2004.5.2.76DOI Listing
June 2004

Surgical treatment of periocular hemangiomas: a single-center experience.

Plast Reconstr Surg 2007 Apr;119(5):1553-1562

London, United Kingdom From the Department of Plastic Surgery, Great Ormond Street Hospital for Children.

Background: At Great Ormond Street Hospital for Children, patients with periocular hemangiomas are assessed in a multidisciplinary team setting using a protocol developed in 1999. As part of this protocol, surgery is indicated for lesions that continue to cause amblyopia despite treatment with systemic or intralesional steroids or both. Surgery is performed by one of the authors (D.D.). This experience is described.

Methods: A retrospective notes review was undertaken of surgically excised periocular hemangiomas.

Results: Eighteen consecutive cases (15 girls and three boys) were identified as having surgical treatment over a 5-year period. The mean age at the time of surgery was 22 months (range, 5 months to 3 years). All but one of the patients had amblyopia or a threat to normal visual development. The follow-up ranged from 1 month to 4 years. Three were lower lid lesions and 15 were upper lid lesions. When there was a threat to normal visual development, preoperative imaging by ultrasound, magnetic resonance imaging, or contrast computed tomography was performed. No rebound growth or deterioration in visual development occurred in this group of patients.

Conclusions: There is limited experience in the literature of excisional surgery for the treatment of periocular hemangiomas. The authors present a series of 18 patients who have been treated at Great Ormond Street Hospital for Children after either failed medical therapies or after patient request. With the appropriate indications and surgical principles, periocular hemangiomas in children can be safely and effectively excised.
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http://dx.doi.org/10.1097/01.prs.0000256068.52183.f5DOI Listing
April 2007

Monitoring visual function in children with syndromic craniosynostosis: a comparison of 3 methods.

Arch Ophthalmol 2006 Aug;124(8):1119-26

Department of Ophthalmology, Great Hospital for Children NHS Trust, London, England.

Objective: To compare visual acuity, optic disc appearance, and transient pattern reversal visual evoked potentials as markers of possible visual dysfunction in children with syndromic craniosynostosis.

Methods: Serial visual acuity, optic disc appearance, and pattern reversal visual evoked potential data were recorded in 8 patients with syndromic craniosynostosis before and after cranial vault expansion. The pattern reversal visual evoked potentials were analyzed using linear regression modeling, applied to the N80 to P100 amplitude.

Results: Serial optic disc appearances were available for all 8 patients and visual acuities for 7 patients. The visual acuity deteriorated in only 1 patient, improved in 4, and fluctuated in 2, before surgery. Of the 8 patients, 3 showed no papilledema in either eye at any time, 3 showed progressive bilateral swelling before surgery, and 2 exhibited only unilateral disc swelling. In all 8 patients, there was a trend for the N80 to P100 amplitude to decrease before surgery and to increase, in all but 2 patients, after surgery.

Conclusions: This study suggests that neither optic disc appearance nor visual acuity assessment alone is a reliable marker of potential visual dysfunction in children with syndromic craniosynostosis. It also suggests that the pattern reversal visual evoked potential can provide early evidence of visual dysfunction before vault expansion surgery in these children; this dysfunction may recover postoperatively.
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http://dx.doi.org/10.1001/archopht.124.8.1119DOI Listing
August 2006

Prevalence of abnormal pattern reversal visual evoked potentials in craniosynostosis.

Plast Reconstr Surg 2006 Jul;118(1):184-92

Tony Kriss Visual Electrophysiology Unit and the Department of Ophthalmology, Great Ormond Street Hospital for Children, Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.

Background: The purpose of this study was to examine the prevalence and type of changes observed in the pattern reversal visual evoked potentials recorded at the first assessment of children with craniosynostosis.

Methods: Visual evoked potentials were recorded from 114 patients with craniosynostosis. Eighty-one patients were syndromic and 33 were nonsyndromic. No patient had received any craniofacial surgical intervention. At the time of the test, 22 of 40 patients were aged 6 months and younger, and 18 patients were between 6 months and 1 year of age. Pattern reversal visual evoked potentials were recorded from a midoccipital electrode positioned 3 cm above the inion. The pattern reversal visual evoked potentials elicited to 50' checks with three reversals per second viewed with both eyes were analyzed for n80-p100 amplitude, p100 latency, and breadth of waveform.

Results: Sixty percent of patients had abnormal pattern reversal visual evoked potentials to 50' checks. This did not show a significant association with age, or classification of craniosynostosis.

Conclusions: The high prevalence of abnormal pattern reversal visual evoked potentials to a robust stimulus suggests that visual pathway dysfunction, as measured electrophysiologically, can affect a majority of patients with craniosynostosis. This study indicates that a baseline evaluation of all children with craniosynostosis at their first presentation is essential if subsequent electrophysiologic visual pathway monitoring is to take place.
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http://dx.doi.org/10.1097/01.prs.0000220873.72953.3eDOI Listing
July 2006

Lamellar macular hole as the presenting feature in a child with Coats' disease.

J Pediatr Ophthalmol Strabismus 2005 Nov-Dec;42(6):378-9

Department of Ophthalmology, Great Ormond Street Hospital for Children, London, United Kingdom.

We report a case of Coats' disease and lamellar macular hole in a 10-year-old boy who presented with blurring of vision in his left eye. This is the first reported case of Coats' disease presenting with a lamellar macular hole in a child.
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February 2006