User profiles for "author:Dorothy A Thompson"
 | Dorothy A ThompsonGreat Ormond Street Hospital for Children NHS Trust Verified email at ucl.ac.uk Cited by 5025 |
[HTML][HTML] VEP estimation of visual acuity: a systematic review
Abstract Purpose Visual evoked potentials (VEPs) can be used to measure visual resolution
via a spatial frequency (SF) limit as an objective estimate of visual acuity. The aim of this …
via a spatial frequency (SF) limit as an objective estimate of visual acuity. The aim of this …
[PDF][PDF] Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
[HTML][HTML] Retinal electrophysiology in central nervous system disorders. A review of human and mouse studies
The retina and brain share similar neurochemistry and neurodevelopmental origins, with the
retina, often viewed as a “window to the brain.” With retinal measures of structure and …
retina, often viewed as a “window to the brain.” With retinal measures of structure and …
[HTML][HTML] Full-field stimulus threshold testing: a scoping review of current practice
LF Shi, AJ Hall, DA Thompson - Eye, 2024 - nature.com
The full-field stimulus threshold (FST) is a psychophysical measure of whole-field retinal
light sensitivity. It can assess residual visual function in patients with severe retinal disease …
light sensitivity. It can assess residual visual function in patients with severe retinal disease …
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1
Objectives To identify CRB1 mutations in a large cohort of patients with recessive retinal
dystrophies and to document the retinal phenotype and visual prognosis. Design A hospital …
dystrophies and to document the retinal phenotype and visual prognosis. Design A hospital …
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies
EA Webb, A AlMutair, D Kelberman, C Bacchelli… - Brain, 2013 - academic.oup.com
We describe a previously unreported syndrome characterized by secondary (post-natal)
microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency …
microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency …
[HTML][HTML] RDH12 retinopathy: novel mutations and phenotypic description
DS Mackay, AD Borman, P Moradi… - Molecular …, 2011 - ncbi.nlm.nih.gov
Purpose To identify patients with autosomal recessive retinal dystrophy caused by mutations
in the gene, retinal dehydrogenase 12 (RDH12), and to report the associated phenotype …
in the gene, retinal dehydrogenase 12 (RDH12), and to report the associated phenotype …
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome
DA Thompson, S Feather, HC Stanescu… - The Journal of …, 2011 - Wiley Online Library
Non‐technical summary Light stimulates ion flow through the retina. This generates a
potential change at the cornea which is recorded as an electroretinogram (ERG). Our …
potential change at the cornea which is recorded as an electroretinogram (ERG). Our …
[HTML][HTML] ISCEV extended protocol for VEP methods of estimation of visual acuity
Abstract The International Society for Clinical Electrophysiology of Vision (ISCEV) standard
for visual evoked potentials (VEPs) describes a minimum procedure for clinical VEP testing …
for visual evoked potentials (VEPs) describes a minimum procedure for clinical VEP testing …
[HTML][HTML] An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy
RH Henderson, N Waseem, R Searle… - … & visual science, 2007 - arvojournals.org
purpose. Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy
(EOSRD) are genetically heterogeneous, with 11 genes currently implicated. The LCA chip …
(EOSRD) are genetically heterogeneous, with 11 genes currently implicated. The LCA chip …