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1.
Value Health ; 24(11): 1603-1611, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34711360

RESUMO

OBJECTIVES: This study aimed to investigate associations between persisting amblyopia into adulthood and its "real-life" impacts and inform the current debate about the value of childhood vision screening programs. METHODS: Associations between persisting amblyopia and diverse socioeconomic, health, and well-being outcomes were investigated in multivariable-adjusted (sex, age, ethnicity, deprivation) regression models, with 126 400 participants (aged 40-70 years) of the UK Biobank with complete ophthalmic data. Analysis by age group (cohort 1, 60-70 years; cohort 2, 50-59 years; cohort 3, 40-49 years) assessed temporal trends. RESULTS: Of 3395 (3%) participants with confirmed amblyopia, overall 77% (2627) had persisting amblyopia, declining from 78% in cohort 1 to 73% in cohort 3. The odds of persisting amblyopia were 5.91 (5.24-6.66) and 2.49 (2.21-2.81) times greater in cohort 1 and cohort 2, respectively, than cohort 3. The odds were also higher for more socioeconomically deprived groups and for white ethnicity. Reduced participation in sport, adverse general and mental health, and well-being were all independently associated with persisting amblyopia, with the strongest associations in the youngest cohorts. Associations with lower educational attainment and economic outcomes were only evident in the oldest cohort. CONCLUSIONS: There has been a decline in the overall frequency of persisting amblyopia since the introduction of universal child vision screening in the United Kingdom. Nevertheless, most adults treated for amblyopia in childhood have persisting vision deficits. There was no evidence that persisting amblyopia has vision-mediated effects on educational, employment-related, or economic outcomes. The observed adverse outcomes were largely those not directly mediated by vision. Patients undergoing treatment should be counseled about long-term outcomes.


Assuntos
Ambliopia/economia , Ambliopia/psicologia , Bancos de Espécimes Biológicos , Nível de Saúde , Satisfação Pessoal , Classe Social , Adulto , Idoso , Bases de Dados Factuais , Escolaridade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reino Unido
2.
Hum Genet ; 138(7): 723-737, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31073882

RESUMO

Strabismus refers to an abnormal alignment of the eyes leading to the loss of central binocular vision. Concomitant strabismus occurs when the angle of deviation is constant in all positions of gaze and often manifests in early childhood when it is considered to be a neurodevelopmental disorder of the visual system. As such, it is inherited as a complex genetic trait, affecting 2-4% of the population. A genome-wide association study (GWAS) for self-reported strabismus (1345 cases and 65,349 controls from UK Biobank) revealed a single genome-wide significant locus on chromosome 17q25. Approximately 20 variants across the NPLOC4-TSPAN10-PDE6G gene cluster and in almost perfect linkage disequilibrium (LD) were most strongly associated (lead variant: rs75078292, OR = 1.26, p = 2.24E-08). A recessive model provided a better fit to the data than an additive model. Association with strabismus was independent of refractive error, and the degree of association with strabismus was minimally attenuated after adjustment for amblyopia. The association with strabismus was replicated in an independent cohort of clinician-diagnosed children aged 7 years old (116 cases and 5084 controls; OR = 1.85, p = 0.009). The associated variants included 2 strong candidate causal variants predicted to have functional effects: rs6420484, which substitutes tyrosine for a conserved cysteine (C177Y) in the TSPAN10 gene, and a 4-bp deletion variant, rs397693108, predicted to cause a frameshift in TSPAN10. The population-attributable risk for the locus was approximately 8.4%, indicating an important role in conferring susceptibility to strabismus.


Assuntos
Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/genética , Mutação , Proteínas Nucleares/genética , Polimorfismo de Nucleotídeo Único , Estrabismo/genética , Estrabismo/patologia , Tetraspaninas/genética , Adulto , Idoso , Animais , Estudos de Casos e Controles , Criança , Estudos de Coortes , Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/metabolismo , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Camundongos , Pessoa de Meia-Idade , Família Multigênica , Proteínas Nucleares/metabolismo , Retina/metabolismo , Fatores de Risco , Estrabismo/metabolismo , Tetraspaninas/metabolismo , Acuidade Visual
3.
Pediatr Diabetes ; 20(7): 932-940, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31270908

RESUMO

BACKGROUND: Children and young people (CYP) living with diabetes require integrated child-centered care. We hypothesized that suboptimal uptake to diabetic retinopathy screening in CYP may be partly related to the degree of services integration. We investigated the structure of the current pediatric diabetic eye care pathway and associations between service-level characteristics and screening uptake. METHODS: A quality improvement project between January and May 2017 comprising a survey of practice of all 158 pediatric diabetes services (pediatric diabetes units, PDUs) across England and secondary data analysis of routinely collected service data. Generalized linear models for proportional responses were fitted to investigate associations between reported PDU characteristics and screening uptake. RESULTS: 124 PDUs (78%) responded. In 67% (n = 83), patients could be referred directly to screening programs; the remainder relied on primary care for onward referral. 97% (n = 120) considered eye screening results useful for counseling patients but only 65% (n = 81) reported it was "easy" to obtain them. Factors independently associated with higher screening uptake were a higher proportion of patients referred from primary care (OR = 1.005; 95%CI = 1.004-1.007 per 1% of increase), absence of "out-of-catchment area" patients (OR = 1.13; 95%CI = 1.04-1.22), and easy access to eye screening results (OR = 1.45; 95%CI = 1.34-1.56). CONCLUSIONS: There is limited direct communication between the services involved in diabetic eye care for CYP in England. This risks reducing the effectiveness of diabetic retinopathy screening. Similar vulnerabilities are likely to exist in other countries where retinopathy screening for CYP has been "bolted on" to provision for adults.


Assuntos
Retinopatia Diabética/diagnóstico , Programas de Rastreamento/organização & administração , Programas de Rastreamento/normas , Encaminhamento e Consulta , Adolescente , Fatores Etários , Criança , Pré-Escolar , Procedimentos Clínicos/organização & administração , Procedimentos Clínicos/normas , Procedimentos Clínicos/estatística & dados numéricos , Diabetes Mellitus/epidemiologia , Retinopatia Diabética/epidemiologia , Inglaterra/epidemiologia , Humanos , Lactente , Recém-Nascido , Programas de Rastreamento/métodos , Atenção Primária à Saúde/métodos , Atenção Primária à Saúde/organização & administração , Atenção Primária à Saúde/normas , Avaliação de Programas e Projetos de Saúde , Encaminhamento e Consulta/organização & administração , Encaminhamento e Consulta/normas , Encaminhamento e Consulta/estatística & dados numéricos , Adulto Jovem
4.
Lancet ; 385(9984): 2308-19, 2015 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-25499167

RESUMO

Amblyopia is a neurodevelopmental disorder that affects at least 2% of most populations and can lead to permanently reduced vision if not detected and treated within a specific period in childhood. Whole-population screening of children younger than 5 years is applied in many countries. The substantial diversity in existing programmes reflects their heterogeneous implementation in the absence of the complete evidence base that is now a pre-requisite for instituting screening. The functional importance of amblyopia at an individual level is unclear as data are scarce, but in view of the high prevalence the population-level effect might be notable. Screening of all children aged 4-5 years (eg, at school entry) confers most benefit and addresses inequity in access to timely treatment. Screening at younger ages is associated with increased risk of false-positive results, and at older ages with poor outcomes for children with moderate to severe amblyopia. We suggest that the real-life adverse effects of amblyopia should be characterised and screening and diagnosis should be standardised.


Assuntos
Ambliopia/diagnóstico , Programas de Rastreamento/normas , Seleção Visual/normas , Ambliopia/epidemiologia , Ambliopia/fisiopatologia , Pré-Escolar , Feminino , Humanos , Masculino , Prevalência , Acuidade Visual
5.
Eur J Epidemiol ; 31(2): 197-210, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26686680

RESUMO

The European Eye Epidemiology (E3) consortium is a recently formed consortium of 29 groups from 12 European countries. It already comprises 21 population-based studies and 20 other studies (case-control, cases only, randomized trials), providing ophthalmological data on approximately 170,000 European participants. The aim of the consortium is to promote and sustain collaboration and sharing of data and knowledge in the field of ophthalmic epidemiology in Europe, with particular focus on the harmonization of methods for future research, estimation and projection of frequency and impact of visual outcomes in European populations (including temporal trends and European subregions), identification of risk factors and pathways for eye diseases (lifestyle, vascular and metabolic factors, genetics, epigenetics and biomarkers) and development and validation of prediction models for eye diseases. Coordinating these existing data will allow a detailed study of the risk factors and consequences of eye diseases and visual impairment, including study of international geographical variation which is not possible in individual studies. It is expected that collaborative work on these existing data will provide additional knowledge, despite the fact that the risk factors and the methods for collecting them differ somewhat among the participating studies. Most studies also include biobanks of various biological samples, which will enable identification of biomarkers to detect and predict occurrence and progression of eye diseases. This article outlines the rationale of the consortium, its design and presents a summary of the methodology.


Assuntos
Oftalmopatias/epidemiologia , Oftalmologia , População Branca , Métodos Epidemiológicos , Estudos Epidemiológicos , Europa (Continente)/epidemiologia , Feminino , Previsões , Humanos , Prevalência , Fatores de Risco
6.
Hum Genet ; 134(2): 131-46, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25367360

RESUMO

To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E-8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E-07), TOX (rs7823467, P = 3.47E-07) and LINC00340 (rs12212674, P = 1.49E-06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = -0.59, P = 2.10E-04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors.


Assuntos
Astigmatismo/genética , Moléculas de Adesão Celular Neuronais/genética , Estudo de Associação Genômica Ampla , Proteínas de Grupo de Alta Mobilidade/genética , Proteínas do Tecido Nervoso/genética , Adulto , Fatores Etários , Povo Asiático , Astigmatismo/patologia , Proteínas de Ligação ao Cálcio , Estudos de Coortes , Feminino , Marcadores Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Moléculas de Adesão de Célula Nervosa , População Branca
7.
Ophthalmology ; 122(8): 1711-7, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26072348

RESUMO

PURPOSE: We sought to define normative visual field (VF) values for children using common clinical test protocols for kinetic and static perimetry. DESIGN: Prospective, observational study. SUBJECTS: We recruited 154 children aged 5 to 15 years without any ophthalmic condition that would affect the VF (controls) from pediatric clinics at Moorfields Eye Hospital. METHODS: Children performed perimetric assessments in a randomized order using Goldmann and Octopus kinetic perimetry, and Humphrey static perimetry (Swedish Interactive Thresholding Algorithm [SITA] 24-2 FAST), in a single sitting, using standardized clinical protocols, with assessment by a single examiner. Unreliable results (assessed qualitatively) were excluded from the normative data analysis. Linear, piecewise, and quantile mixed-effects regression models were used. We developed a method to display age-specific normative isopters graphically on a VF plot to aid interpretation. MAIN OUTCOME MEASURES: Summary measures and graphical plots describing normative VF data for 3 common perimetric tests. RESULTS: Visual field area increased with age on testing with Goldmann isopters III4e, I4e, and I2e (linear regression; P < 0.001) and for Octopus isopters III4e and I4e (linear regression; P < 0.005). Visual field development occurs predominately in the inferotemporal field. Humphrey mean deviation (MD) showed an increase of 0.3 decibels (dB; 95% CI, 0.21-0.40) MD per year up to 12 years of age, when adult MD values were reached and thereafter maintained. CONCLUSIONS: Visual field size and sensitivity increase with age in patterns that are specific to the perimetric approach used. These developmental changes should be accounted for when interpreting perimetric test results in children, particularly when monitoring change over time.


Assuntos
Envelhecimento/fisiologia , Testes de Campo Visual/instrumentação , Campos Visuais/fisiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Prospectivos , Valores de Referência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Testes de Campo Visual/métodos
8.
Hum Genet ; 131(9): 1467-80, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22665138

RESUMO

Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 × 10(-12) for SNP rs634990 in Caucasians, and 9.65 × 10(-4) for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 × 10(-23) for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P < 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49, P < 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (P value 5.81 × 10(-2) for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.


Assuntos
Cromossomos Humanos Par 15 , Miopia/genética , Alelos , Humanos , Fenótipo , Polimorfismo de Nucleotídeo Único
9.
PLoS One ; 17(1): e0260993, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35045072

RESUMO

This study investigated temporal trends in the epidemiology of primary myopia and associations with key environmental risk factors in a UK population. Data were collected at recruitment (non-cycloplegic autorefraction, year of birth, sex, ethnicity, highest educational attainment, reason and age of first wearing glasses and history of eye disease) from 107,442 UK Biobank study participants aged 40 to 69 years, born between 1939 and 1970. Myopia was defined as mean spherical equivalent (MSE) ≤-1 dioptre (D). Temporal changes in myopia frequency by birth cohort (5-year bands using date of birth) and associations with environmental factors were analysed, distinguishing both type (childhood-onset, <18 years versus adult-onset) and severity (three categories: low -1.00 to -2.99D, moderate -3.00 to -5.99D or high ≥-6.00D). Overall myopia frequency increased from 20.0% in the oldest cohort (births 1939-1944) to 29.2% in the youngest (1965-1970), reflecting a relatively higher increase in frequency of adult-onset and low myopia. Childhood-onset myopia peaked in participants born in 1950-54, adult-onset myopia peaked in the cohort born a decade later. The distribution of MSE only shifted for childhood-onset myopia (median: -3.8 [IQR -2.4, -5.4] to -4.4 [IQR -3.0, -6.2]). The magnitude of the association between higher educational attainment (proxy for educational intensity) and myopia overall increased over time (adjusted Odds Ratio (OR) 2.7 [2.5, 2.9] in the oldest versus 4.2 [3.3, 5.2] in the youngest cohort), being substantially greater for childhood-onset myopia (OR 3.3 [2.8, 4.0] to 8.0 [4.2, 13]). Without delineating childhood-onset from adult-onset myopia, important temporal trends would have been obscured. The differential impact of educational experience/intensity on both childhood-onset and high myopia, amplified over time, suggests a cohort effect in gene-environment interaction with potential for increasing myopia frequency if increasing childhood educational intensity is unchecked. However, historical plateauing of myopia frequency does suggest some potential for effective intervention.


Assuntos
Miopia
10.
Eye (Lond) ; 36(6): 1281-1287, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-34155365

RESUMO

BACKGROUND: Perimetry is important in the management of children with glaucoma, but there is limited evidence-based guidance on its use. We report an expert consensus-based study to update guidance and identify areas requiring further research. METHODS: Experts were invited to participate in a modified Delphi consensus process. Panel selection was based on clinical experience of managing children with glaucoma and UK-based training to minimise diversity of view due to healthcare setting. Questionnaires were delivered electronically, and analysed to establish 'agreement'. Divergence of opinions was investigated and resolved where possible through further iterations. RESULTS: 7/9 experts invited agreed to participate. Consensus (≥5/7 (71%) in agreement) was achieved for 21/26 (80.8%) items in 2 rounds, generating recommendations to start perimetry from approximately 7 years of age (IQR: 6.75-7.25), and use qualitative methods in conjunction with automated reliability indices to assess test quality. There was a lack of agreement about defining progressive visual field (VF) loss and methods for implementing perimetry longitudinally. Panel members highlighted the importance of informing decisions based upon individual circumstances-from gauging maturity/capability when selecting tests and interpreting outcomes, to accounting for specific clinical features (e.g. poor IOP control and/or suspected progressive VF loss) when making decisions about frequency of testing. CONCLUSIONS: There is commonality of expert views in relation to implementing perimetry and interpreting test quality in the management of children with glaucoma. However, there remains a lack of agreement about defining progressive VF loss, and utilising perimetry over an individuals' lifetime, highlighting the need for further research.


Assuntos
Glaucoma , Testes de Campo Visual , Criança , Consenso , Glaucoma/diagnóstico , Glaucoma/terapia , Humanos , Reprodutibilidade dos Testes , Pesquisa , Transtornos da Visão/diagnóstico , Testes de Campo Visual/métodos , Campos Visuais
11.
Ophthalmology ; 118(5): 797-804, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21185080

RESUMO

PURPOSE: To investigate the hypothesis that the excessive growth of the eye in myopia is associated with general growth and thus influenced by early life biological and social factors, and that these associations underlie recent secular trends of increasing prevalence and severity of myopia. DESIGN: Cohort study. PARTICIPANTS: A total of 2487 randomly selected 44-year-old members of the 1958 British birth cohort (27% subsample). METHODS: Diverse and detailed biological, social, and lifestyle data have been collected by following members since birth through a series of clinical examinations or face-to-face interviews carried out by trained examiners. At 44 years, cohort members underwent autorefraction using the Nikon Retinomax 2 (Nikon Corp., Tokyo, Japan) under non-cycloplegic conditions. A lifecourse epidemiologic approach, based on 4 sequential multivariable "life stage" models (preconceptional; prenatal, perinatal, and postnatal; childhood; and adult), was used to examine the influence of early life biological, social and lifestyle factors, growth patterns, and "eye-specific" factors on myopia. MAIN OUTCOME MEASURES: Myopia severity (all, mild/moderate: spherical equivalent -0.75 to -5.99 diopters [D]; severe: ≥-6.00 D extreme vs. emmetropia -0.74 to +0.99 D) and myopia onset (early [<16 years] vs. later). RESULTS: A total of 1214 individuals (49%; 95% confidence interval, 48.8-50.8) were myopic (late onset in 979 [80.6%]). Myopia was positively associated with low birthweight for gestational age, gender, greater maternal age, higher paternal occupational social class, and maternal smoking in early pregnancy. Myopia was independently associated with proxy markers of near work and educational performance, with some differences by onset and severity. In adults, greater height and higher educational attainment and socioeconomic status were associated with myopia. CONCLUSIONS: Trends in the key influences on child health and growth identified as novel putative risk factors in this study are consistent with global trends of increasing myopia: increasing births to older mothers, increasing rates of intrauterine growth retardation and survival of affected children, increasing persistence of smoking in pregnancy, and changing socioeconomic status. Prospects for prevention of myopia would be improved by a paradigm shift in myopia research, with lifecourse and genetic epidemiologic approaches applied in tandem in large unselected populations.


Assuntos
Estilo de Vida , Miopia/epidemiologia , Adulto , Peso ao Nascer , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Masculino , Idade Materna , Pessoa de Meia-Idade , Prevalência , Refração Ocular/fisiologia , Fatores de Risco , Índice de Gravidade de Doença , Comportamento Social , Reino Unido/epidemiologia , Adulto Jovem
12.
Epilepsia ; 52(8): 1513-21, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21762447

RESUMO

PURPOSE: There is uncertainty about health and socioeconomic outcomes of children with epilepsy, knowledge of adult outcomes, and factors associated with adverse outcomes are essential to guide prognosis, improve management, and determine appropriate allocation of resources. METHODS: A subgroup of 101 children with epilepsy (onset ≤ age 16 years) were previously identified and reported from the 1958 National Child Development Study (NCDS), a national United Kingdom birth cohort study. In the current study we examine outcomes of this unique childhood epilepsy subgroup at age 33 compared to unaffected NCDS cohort members in mental and general health, education and employment, marriage, and parenthood. Multivariable regression analyses were used to investigate factors (including etiology, cognitive development, parental interest, and childhood anxiety/depression at age 11 years) associated with adverse outcomes. key findings: Sixty-five (66%) were still participating at 33 years. Median follow-up after epilepsy onset was 28 years (range 17-33 years). Thirty participants [46%, 95% confidence interval (CI) 35-58] had epilepsy onset <5 years, 32 (49%, 95% CI 37-61) had "symptomatic" epilepsy, and 33 (51%, 95% CI 39-63) had idiopathic epilepsy. Thirty-one participants (48%) reported being seen by their doctor for epilepsy in the preceding year, 27 (42%) were registered disabled, 39 (60%) had a drivers license, and 42 (65%) thought their epilepsy made it harder to get/keep a paid job. People who had childhood epilepsy had an increased risk of death [standardized mortality rate (SMR) 3.1, 95% CI 1.1-6.1]. Childhood epilepsy was associated with poor general and mental health at 33 years on univariable analyses, but not after adjusting for childhood cognitive development/comorbidities and anxiety over acceptance by peers/adults at age 11. Childhood epilepsy was an independent risk factor for not being married [odds ratio (OR) 0.45, 95% CI 0.05-0.94] or being a parent (OR 0.67, 95% CI 0.42-0.91). People with childhood epilepsy and poor cognitive development compared to those with poor cognitive development without epilepsy had a greater proportion with subsequent poor mental health (56% vs. 24%, difference in proportion 33%, 95% CI 12-50), and a lesser proportion who married (39% vs. 78%, difference in proportion -39%, 95% CI -56 to -19). SIGNIFICANCE: Compared to the unaffected population, children with epilepsy with good cognitive development/without comorbidities have similar adult health, educational, and employment outcomes but have difficulties with establishing and maintaining personal relationships. A combination of having childhood epilepsy plus poor cognitive development is more likely to be associated with adverse outcomes compared to having poor cognitive development without childhood epilepsy. Children with epilepsy have increased risk of death compared to the rest of the population. Pharmacologic management alone is inadequate and long-term psychosocial support is needed.


Assuntos
Epilepsia/fisiopatologia , Adolescente , Adulto , Criança , Estudos de Coortes , Escolaridade , Epilepsia/psicologia , Feminino , Seguimentos , Humanos , Masculino , Casamento , Saúde Mental , Avaliação de Resultados em Cuidados de Saúde , Pais
13.
Ophthalmology ; 117(11): 2184-90.e1-3, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20561688

RESUMO

PURPOSE: To report the prevalence and distribution of eye conditions and visual impairment and associations with early social and biological factors using parental report of diagnosed eye conditions and additional chronic illnesses. DESIGN: Population-based, cross-sectional study. PARTICIPANTS: We included 14 981 children, aged 3 years, participating in the United Kingdom Millennium Cohort Study. METHODS: Data on demographic, socioeconomic, and maternal and child health factors were obtained by maternal report through structured interview and verbatim reports of diagnosed eye problems and additional chronic illnesses were recorded. Multinomial regression analyses were used to calculate risk ratios of the association of eye disease (with or without associated visual impairment), with socioeconomic and early life factors. MAIN OUTCOME MEASURES: Parental report of diagnosed eye conditions and other chronic illnesses. RESULTS: Overall, at 3 years, 5.7% (95% confidence interval, 5.2-6.3%; n = 881) of children had ≥ 1 eye condition with 0.24% (0.15-0.3%; n = 45) reported to have associated visual impairment. In the majority, time of onset was reported to be the first year of life. Eye disorders without report of visual impairment were independently associated with lower socioeconomic status, decreasing birth weight, and prematurity. Visual impairment was more likely in those of low birthweight for gestational age and from an ethnic minority group. Maternal illnesses during pregnancy were associated with eye disease without reported visual impairment, as was white ethnicity. CONCLUSIONS: Good research opportunities exist within the context of population-based general health surveys to use parental report to estimate minimum prevalence, investigate associations of eye disease with a broad range of environmental factors, and as a mechanism for "flagging" individuals with eye disease in a population sample for further study. Our findings regarding the association of parentally reported childhood eye disease with early life factors such as modest degrees of prematurity, ethnicity and maternal ill-health warrant further investigation. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any of the materials discussed in this article.


Assuntos
Oftalmopatias/epidemiologia , Pessoas com Deficiência Visual/estatística & dados numéricos , Peso ao Nascer , Proteção da Criança , Pré-Escolar , Doença Crônica , Comorbidade , Estudos Transversais , Etnicidade , Feminino , Humanos , Estudos Longitudinais , Masculino , Bem-Estar Materno , Razão de Chances , Prevalência , Fatores de Risco , Classe Social , Reino Unido/epidemiologia
16.
Nat Genet ; 52(4): 401-407, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32231278

RESUMO

Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the molecular mechanisms that underlie abnormal eye development and impaired vision. We conducted a meta-analysis of genome-wide association studies (GWAS) that involved 542,934 European participants and identified 336 novel genetic loci associated with refractive error. Collectively, all associated genetic variants explain 18.4% of heritability and improve the accuracy of myopia prediction (area under the curve (AUC) = 0.75). Our results suggest that refractive error is genetically heterogeneous, driven by genes that participate in the development of every anatomical component of the eye. In addition, our analyses suggest that genetic factors controlling circadian rhythm and pigmentation are also involved in the development of myopia and refractive error. These results may enable the prediction of refractive error and the development of personalized myopia prevention strategies in the future.


Assuntos
Predisposição Genética para Doença/genética , Miopia/genética , Erros de Refração/genética , Adulto , Idoso , Feminino , Estudo de Associação Genômica Ampla/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , População Branca/genética
18.
Ophthalmology ; 116(2): 270-4, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19091416

RESUMO

PURPOSE: To describe the prevalence of impaired vision and its relative burden, together with the prevalence of impaired vision-related quality of life (VRQOL), and investigate associations with social outcomes in a contemporary and nationally representative population of working age adults. DESIGN: Population-based cross-sectional study. PARTICIPANTS: We included 9330 members of the 1958 British birth cohort at age 44 and 45 years. METHODS: "Habitual" and "best achieved" distance visual acuity in each eye, binocular near vision acuity and stereoacuity (three dimensional/depth perception) were tested during a broader biomedical examination. VRQOL was assessed using the Vision-related Quality of Life Core Measure 1 (VCM1), a validated, 10-item, self-complete instrument. Logistic and proportional odds ordinal logistic regression were used to calculate odds ratios (ORs) of the association of VRQOL with visual acuities and social outcomes. MAIN OUTCOME MEASURES: Distance, near, and stereo acuities and VRQOL and social outcomes. RESULTS: Of the 1.3% (124) of those with visual loss that precluded driving, a further 0.75% (70) were visually impaired or severely visually impaired and 0.15% (14) blind, the latter accounting for 19% total population (all ages) burden of blindness. Impairment of VRQOL is strongly associated with impaired distance, near, and stereo vision, as well as with adverse occupational and other social outcomes. However, VRQOL impairment is also sometimes reported with unilateral or mild bilateral visual loss. CONCLUSIONS: Although impaired vision in working age adults is relatively uncommon, it confers important adverse consequences for the "health and wealth" of the public. This may be captured best by assessment of VRQOL in addition to objective visual function. Ophthalmic disorders occurring or impacting in middle life should be given a higher priority than currently in national and international strategies against avoidable visual disability. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.


Assuntos
Cegueira/epidemiologia , Qualidade de Vida , Baixa Visão/epidemiologia , Pessoas com Deficiência Visual/estatística & dados numéricos , Adulto , Cegueira/fisiopatologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Perfil de Impacto da Doença , Percepção Social , Reino Unido/epidemiologia , Baixa Visão/fisiopatologia , Acuidade Visual/fisiologia
19.
Ophthalmology ; 116(10): 1866-71, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19560208

RESUMO

PURPOSE: To investigate how visual function in mid-adult life is associated with health and social outcomes and, using life-course epidemiology, whether it is influenced by early life biological and social factors. DESIGN: Population-based cohort study. PARTICIPANTS: Nine thousand three hundred thirty members of the 1958 British birth cohort at age 44 or 45 years. METHODS: Distance, near, and stereo vision were assessed as part of a broader biomedical examination. Logistic, multinomial, and proportional odds ordinal logistic regression were used, as appropriate, to assess the association between these vision functions and both key early life influences and health and social outcomes in mid-adult life. MAIN OUTCOME MEASURES: Distance, near, and stereo acuities and health and social outcomes. RESULTS: In mid-adult life, vision function (across the full spectrum of both type and level of function) is associated with unemployment resulting from permanent sickness, lower socioeconomic status, and poorer general health (for example, for blindness; odds ratios were 2.5, 2.6, and 1.2, respectively). Also, impaired visual functions in mid-adult life are associated with a low birthweight, being small for gestational age, maternal smoking in pregnancy, and markers of socioeconomic deprivation in childhood (for example, for impaired distance acuity; odds ratios were 1.4, 1.3, 1.02, and 1.1, respectively). CONCLUSIONS: Although relatively uncommon in working-age adults, impaired vision can have important adverse consequences, which highlights the value of investigating visual function in the broader context of health and social functioning. In addition, visual function in adult life may be influenced directly by key prenatal and childhood biological and social determinants of general health. Thus, application of life-course epidemiology to complex chronic ophthalmic diseases of adult life such as glaucoma or macular degeneration is likely to prove valuable in elucidating whether and how biological, social, and lifestyle factors contribute to the cause.


Assuntos
Atividades Cotidianas , Avaliação da Deficiência , Nível de Saúde , Percepção Social , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologia , Trabalho , Adulto , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Classe Social , Desemprego , Visão Binocular/fisiologia
20.
Br J Ophthalmol ; 103(8): 1085-1091, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30232171

RESUMO

AIMS: We compared feasibility, quality and outcomes of visual field (VF) testing in children with neuro-ophthalmic disease between the discontinued 'gold-standard' Goldmann and Octopus perimeters. METHODS: Children with neuro-ophthalmic disease, attending Great Ormond Street Hospital, London, were assessed using standardised protocols by one examiner in a single sitting, using Goldmann and Octopus kinetic perimetry. Outputs were classified to compare severity of loss and defect type. Test quality was assessed using both qualitative and quantitative methods. RESULTS: Thirty children (40% female) aged 5-15 years participated. Goldmann perimetry was completed in full by 90.0% vs 72.4% for Octopus. Inability to plot the blind spot was the most common reason for not completing testing. Over 75% completed a test in ≤20 min. Duration was similar between perimeters (paired t-test, mean difference: 0.48min (-1.2, 2.2), p=0.559). The lowest quality tests were for Octopus perimetry in children <8 years, without significant differences between perimeters in older children (McNemar's test, χ2=1.0, p=0.317). There was broad agreement between Goldmann and Octopus outputs (good quality, n=21, Bland-Altman, mean difference for isopters I4e (-514.3 deg2 (-817.4, -211.2), p=0.814), I2e (-575.5 deg2 (-900.1, -250.9), p=0.450) and blind spot (20.8 deg2 (5.7, 35.8), p=0.451)). However, VF severity grades and defect type matched in only 57% and 69% of tests, respectively. Octopus perimetry underestimated severe VF defects. CONCLUSIONS: Informative perimetry is feasible in children ≥8 years with neuro-ophthalmic conditions, with either Goldmann or Octopus perimeters. However, meaningful differences exist between the two approaches with implications for consistency in longitudinal assessments.


Assuntos
Transtornos da Visão/diagnóstico , Acuidade Visual/fisiologia , Testes de Campo Visual/métodos , Campos Visuais/fisiologia , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos Prospectivos , Reprodutibilidade dos Testes , Transtornos da Visão/fisiopatologia
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