29 research outputs found

    The improving outcomes in intermittent exotropia study: outcomes at 2 years after diagnosis in an observational cohort

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    Background: The purpose of this study was to investigate current patterns of management and outcomes of intermittent distance exotropia [X(T)] in the UK. Methods: This was an observational cohort study which recruited 460 children aged < 12 years with previously untreated X(T). Eligible subjects were enrolled from 26 UK hospital ophthalmology clinics between May 2005 and December 2006. Over a 2-year period of follow-up, clinical data were prospectively recorded at standard intervals from enrolment. Data collected included angle, near stereoacuity, visual acuity, control of X(T) measured with the Newcastle Control Score (NCS), and treatment. The main outcome measures were change in clinical outcomes (angle, stereoacuity, visual acuity and NCS) in treated and untreated X(T), 2 years from enrolment (or, where applicable, 6 months after surgery). Change over time was tested using the chi-square test for categorical, Wilcoxon test for non-parametric and paired-samples t-test for parametric data. Results: At follow-up, data were available for 371 children (81% of the original cohort). Of these: 53% (195) had no treatment; 17% (63) had treatment for reduced visual acuity only (pure refractive error and amblyopia); 13% (50) had non surgical treatment for control (spectacle lenses, occlusion, prisms, exercises) and 17% (63) had surgery. Only 0.5% (2/371) children developed constant exotropia. The surgically treated group was the only group with clinically significant improvements in angle or NCS. However, 8% (5) of those treated surgically required second procedures for overcorrection within 6 months of the initial procedure and at 6-month follow-up 21% (13) were overcorrected. Conclusions: Many children in the UK with X(T) receive active monitoring only. Deterioration to constant exotropia, with or without treatment, is rare. Surgery appears effective in improving angle of X(T) and NCS, but rates of overcorrection are high

    Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

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    Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms and obstructive lung disease, infertility and body axis laterality defects. We applied a next-generation sequencing approach to identify the gene responsible for this phenotype in two consanguineous families

    Genomic reconstruction of the SARS-CoV-2 epidemic in England.

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    The evolution of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus leads to new variants that warrant timely epidemiological characterization. Here we use the dense genomic surveillance data generated by the COVID-19 Genomics UK Consortium to reconstruct the dynamics of 71 different lineages in each of 315 English local authorities between September 2020 and June 2021. This analysis reveals a series of subepidemics that peaked in early autumn 2020, followed by a jump in transmissibility of the B.1.1.7/Alpha lineage. The Alpha variant grew when other lineages declined during the second national lockdown and regionally tiered restrictions between November and December 2020. A third more stringent national lockdown suppressed the Alpha variant and eliminated nearly all other lineages in early 2021. Yet a series of variants (most of which contained the spike E484K mutation) defied these trends and persisted at moderately increasing proportions. However, by accounting for sustained introductions, we found that the transmissibility of these variants is unlikely to have exceeded the transmissibility of the Alpha variant. Finally, B.1.617.2/Delta was repeatedly introduced in England and grew rapidly in early summer 2021, constituting approximately 98% of sampled SARS-CoV-2 genomes on 26 June 2021

    Visual acuity, crowding, and stereo-vision are linked in children with and without amblyopia

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    During development, the presence of strabismus and anisometropia frequently leads to amblyopia, a visual disorder characterized by interocular acuity differences. Although additional deficits in contrast sensitivity, crowding (the impaired recognition of closely spaced objects), and stereoacuity are common, the relationship between these abilities is unclear

    A worldwide survey of retinopathy of prematurity screening.

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    BACKGROUND: To ascertain which countries in the world have retinopathy of prematurity (ROP) screening programmes and guidelines and how these were developed. METHODS: An email database was created and requests were sent to ophthalmologists in 141 nations to complete an online survey on ROP screening in their country. RESULTS: Representatives from 92/141 (65%) countries responded. 78/92 (85%) have existing ROP screening programmes, and 68/78 (88%) have defined screening criteria. Some countries have limited screening and those areas which have no screening or for which there is inadequate knowledge are mainly Southeast Asia, Africa and some former Soviet states. DISCUSSION: With the increasing survival of premature babies in lower-middle-income and low-income countries, it is important to ensure that adequate ROP screening and treatment is in place. This information will help organisations focus their resources on those areas most in need

    Differential Changes in Color and Motion-Onset Visual Evoked Potentials from Both Eyes in Early-and Late-Onset Strabismic Amblyopia

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    PURPOSE. To examine changes in color-and motion-related visual function in patients with strabismic amblyopia. METHODS. Motion-onset and color visual-evoked potentials (VEPs) were recorded in 16 adult patients with strabismic amblyopia which had an early onset, before 18 months of age, and 14 patients with amblyopia of later onset. The results are compared with those from 21 normal adults. RESULTS. The peak times of motion-onset VEPs in the amblyopic eye were longer those than in the fellow eye in patients with both early-and late-onset strabismic amblyopia, but peak times in both amblyopic and fellow eyes were shorter than those in normal eyes. In patients with late-but not early-onset amblyopia, the peak times for color VEPs were significantly longer in amblyopic than in fellow and normal eyes. CONCLUSIONS. The patterns of abnormality for motion-onset and color VEPs in patients with strabismic amblyopia are different, probably indicating differential changes in function in magno-and parvocellular pathways. These abnormalities affect both the amblyopic and fellow eyes and are different in patients with an onset of amblyopia before or after 18 months of age. (Invest Ophthalmol Vis Sci. 2008;49:4418 -4426

    Differential changes of magnocellular and parvocellular visual function in early- and lateonset strabismic amblyopia. Investigative Ophthalmology and Visual

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    PURPOSE. Studies in nonhuman primates show that monocular visual deprivation starting at different ages has different effects on cells in the parvocellular and magnocellular laminae of the lateral geniculate nucleus. The present study used color and luminance contrast sensitivity (CS) measurements to look for differences in parvocellular-and magnocellular-related visual function in human subjects with strabismic amblyopia. METHODS. Fifteen subjects with early-and 14 with late-onset strabismic amblyopia and similar ranges of visual acuity were studied, together with 15 subjects with normal vision. Contrast sensitivities were measured to an equiluminant (L-M conemodulated) grating with slow onset and an achromatic (LϩM cone-modulated) 0.8-cpd grating with rapid onset using an adaptive method. RESULTS. Luminance and color CS were lower in the amblyopic eyes than in the fellow eyes of all amblyopes. For luminance CS, this was due both to an increase in sensitivity of the fellow eye and to a reduction in sensitivity in the amblyopic eye. Color CS was greatly reduced in the amblyopic and fellow eyes of subjects with strabismic amblyopia of early-and late onset compared with subjects with normal vision. The reduction in color CS compared with luminance CS was significantly greater in eyes with late-rather than early-onset amblyopia. CONCLUSIONS. Parvocellular and magnocellular function are differentially affected in the amblyopic and fellow eyes of subjects with strabismic amblyopia. The difference is more marked in late-onset amblyopia than in early-onset amblyopia. (Invest Ophthalmol Vis Sci. 2006;47:4836 -4841
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