A5048521450- Retinal Development and Disorders
- Photoreceptor and optogenetics research
- Retinal Diseases and Treatments
- Visual perception and processing mechanisms
- Neuroscience and Neural Engineering
- Neural dynamics and brain function
- Australian History and Society
- Glaucoma and retinal disorders
- Ophthalmology and Visual Impairment Studies
- Ocular Disorders and Treatments
- Craniofacial Disorders and Treatments
- Intraocular Surgery and Lenses
- Retinal and Optic Conditions
- Historical and Linguistic Studies
- American Constitutional Law and Politics
- Biomedical Research and Pathophysiology
- Fetal and Pediatric Neurological Disorders
- Cleft Lip and Palate Research
- Political and Economic history of UK and US
- Connexins and lens biology
- Historical Economic and Social Studies
- Genetic and Kidney Cyst Diseases
- Lysosomal Storage Disorders Research
- Cerebral Venous Sinus Thrombosis
- Ocular and Laser Science Research
Great Ormond Street Hospital for Children NHS Foundation Trust
2015-2025
Great Ormond Street Hospital
2016-2025
University College London
2016-2025
University of London
2025
National Hospital for Neurology and Neurosurgery
2023
Ulverscroft (United Kingdom)
2018-2021
Institute of Child Health
2019
Cambridge University Hospitals NHS Foundation Trust
2016
University College Hospital at Westmoreland Street
2015
City, University of London
2015
Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, a renal salt-losing tubulopathy normotensive hypokalemic metabolic alkalosis. We investigated the genetic basis of this autosomal recessive disease, which we call EAST syndrome (the presence epilepsy, tubulopathy).
Abstract The pattern electroretinogram (PERG) is a localized retinal response evoked by contrast-reversing pattern, usually black and white checkerboard, which provides information about macular ganglion cell function. This document, from the International Society for Clinical Electrophysiology of Vision (ISCEV; www.iscev.org ) presents an updated revised Standard clinical PERG testing. replaces 2013 all earlier versions. Minimum protocols basic stimuli, recording methods reporting are...
Abstract The full-field stimulus test (FST) is a psychophysical technique designed for the measurement of visual function in low vision. method involves use ganzfeld stimulator, as used routine electroretinography, to deliver flashes light. This guideline was developed jointly by International Society Clinical Electrophysiology Vision (ISCEV) and Imaging Perimetry (IPS) order provide technical information, promote consistency testing reporting, encourage convergence methods FST. It intended...
To identify CRB1 mutations in a large cohort of patients with recessive retinal dystrophies and to document the phenotype visual prognosis.A hospital-based cross-sectional study children adults dystrophies.Three hundred six Leber congenital amaurosis (LCA), early-onset childhood dystrophy or juvenile onset retinitis pigmentosa were recruited gave blood samples for molecular genetic analysis.A detailed clinical examination was performed, including: logMAR acuity, refraction, Goldmann fields,...
We describe a previously unreported syndrome characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys urinary tract in highly consanguineous family six affected children. Homozygosity mapping exome sequencing revealed novel homozygous frameshift mutation basic helix-loop-helix transcription factor gene ARNT2 (c.1373_1374dupTC) individuals. This results...
Purpose.: To present a detailed phenotypic and molecular study of series 18 patients from 11 families with retinal dystrophies consequent on mutations in the cone–rod homeobox (CRX) gene to report novel phenotype. Methods.: Families were ascertained tertiary clinic United Kingdom enrolled into dystrophy studies investigating phenotype basis inherited disease. Eleven cohorts further seven investigation affected relatives. Detailed phenotyping included electrodiagnostic testing imaging....
Telomere length is a risk factor in disease and the dynamics of telomere are crucial to our understanding cell replication vitality. The proliferation whole genome sequencing represents an unprecedented opportunity glean new insights into biology on previously unimaginable scale. To this end, number approaches for estimating from whole-genome data have been proposed. Here we present Telomerecat, novel approach estimation length. Previous methods dependent telomeres being known, which may be...
The International Society for Clinical Electrophysiology of Vision (ISCEV) standard visual evoked potentials (VEPs) describes a minimum procedure clinical VEP testing and encourages more extensive testing. This ISCEV extended protocol is an extension to the standard. It procedures recording multiple VEPs range sizes pattern stimuli establish spatial frequency limit (threshold) relating this acuity.
Autism spectrum disorder (ASD) is a neurodevelopmental condition that impacts language, communication and social interactions. The current diagnostic process for ASD based upon detailed multidisciplinary assessment. Currently no clinical biomarker exists to help in the diagnosis monitoring of this has prevalence approximately 1%. electroretinogram (ERG), test records electrical response retina light. ERG promising way study different neurodegenerative disorders, including ASD. In study, we...
Abstract Background Attention Deficit Hyperactivity Disorder (ADHD) is the most prevalent childhood neurodevelopmental disorder. It shares some genetic risk with Autism Spectrum (ASD), and conditions often occur together. Both are potentially associated abnormal glutamate GABA neurotransmission, which can be modelled by measuring synaptic activity in retina an electroretinogram (ERG). Reduction of retinal responses ASD has been reported, but little known about ADHD. In this study, we...
The K+ channel expressed by the KCNJ10 gene (Kir4.1) has previously demonstrated importance in retinal function animal experiments. Recently, mutations were recognised as pathogenic man, causing a constellation of symptoms, including epilepsy, ataxia, sensorineural deafness and renal tubulopathy designated EAST syndrome. We have studied impact on human electroretinogram (ERG) four unrelated patients with Corneal ganzfeld ERGs elicited response to flash stimuli strengths 0.001–10 phot cd s/m2...
To evaluate the electroretinogram waveform in autism spectrum disorder (ASD) and attention deficit hyperactivity (ADHD) using a discrete wavelet transform (DWT) approach.A total of 55 ASD, 15 ADHD 156 control individuals took part this study. Full field light-adapted electroretinograms (ERGs) were recorded Troland protocol, accounting for pupil size, with five flash strengths ranging from -0.12 to 1.20 log photopic cd.s.m-2. A DWT analysis was performed Haar on waveforms examine energy...
The electroretinogram (ERG) is a clinical test that records the retina's electrical response to brief flash of light as waveform signal. Analysis ERG signal offers promising non-invasive method for studying different neurodevelopmental and neurodegenerative disorders. Autism Spectrum Disorder (ASD) condition characterized by poor communication, reduced reciprocal social interaction, restricted and/or repetitive stereotyped behaviors should be detected early possible ensure timely appropriate...
Visual electrophysiology is a powerful, objective test of function and especially valuable for children others who are unable to communicate what they can see. This talk will explore by clinic example, acceptable, robust tests alert young that diagnostically accurate. Some considerations: pathway maturity – uncomplicated delayed visual maturation does not delay the timing fundal signs may be as apparent adults, such pigmentary changes or optic atrophy take time appear. Children present with...