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1.
Hum Mol Genet ; 31(19): 3290-3298, 2022 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-35567543

RESUMO

High myopia [refractive error ≤ -6 diopters (D)] is a heterogeneous condition, and without clear accompanying features, it can be difficult to pinpoint a genetic cause. This observational study aimed to evaluate the utility of whole exome sequencing (WES) using an eye disorder gene panel in European patients with high myopia. Patients with high myopia were recruited by ophthalmologists and clinical geneticists. Clinical features were categorized into isolated high myopia, high myopia with other ocular involvement or with systemic involvement. WES was performed and an eye disorder gene panel of ~500 genes was evaluated. Hundred and thirteen patients with high myopia [mean (SD) refractive error - 11.8D (5.2)] were included. Of these, 53% were children younger than 12 years of age (53%), 13.3% were aged 12-18 years and 34% were adults (aged > 18 years). Twenty-three out of 113 patients (20%) received a genetic diagnosis of which 11 patients displayed additional ocular or systemic involvement. Pathogenic variants were identified in retinal dystrophy genes (e.g. GUCY2D and CACNA1F), connective tissue disease genes (e.g. COL18A1 and COL2A1), non-syndromic high myopia genes (ARR3), ocular development genes (e.g. PAX6) and other genes (ASPH and CNNM4). In 20% of our high myopic study population, WES using an eye gene panel enabled us to diagnose the genetic cause for this disorder. Eye genes known to cause retinal dystrophy, developmental or syndromic disorders can cause high myopia without apparent clinical features of other pathology.


Assuntos
Miopia , Distrofias Retinianas , Adulto , Criança , Olho , Proteínas do Olho/genética , Humanos , Miopia/genética , Distrofias Retinianas/genética , Sequenciamento do Exoma
2.
Ophthalmic Physiol Opt ; 43(3): 402-409, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36772877

RESUMO

PURPOSE: To battle the spreading of the COVID-19 virus, nationwide lockdowns were implemented during 2020 and 2021. Reports from China revealed that their strict home confinements led to an increase in myopia incidence. The Netherlands implemented a more lenient lockdown, which allowed children to go outside. We evaluated the association between COVID-19 restrictions, myopia risk behaviour and myopia progression in Dutch teenagers. METHOD: A total of 1101 participants (mean age 16.3 ± 3.65 yrs) completed questionnaires about their activities before, during and after lockdown (March-October 2020). We used a repeated-measures ANOVA to compare time use between these time periods. Ocular measurements were acquired before the COVID-19 pandemic when participants were 13 years old; only 242 participants had ocular measurements at 18 years of age at the time of this analysis. Linear regression analyses were used to evaluate the association between lifestyle factors and myopia progression. RESULTS: Children were on average 16.2 (1.03) years of age during lockdown. Total nearwork increased from 8.11 h/day to 11.79 h/day, and remained higher after lockdown at 9.46 h/day (p < 0.001). Non-educational nearwork increased by 2.22 h/day (+49%) during lockdown and was associated with faster axial length progression (B 0.002 mm/h/year; SE 0.001 p = 0.03). Before and during lockdown, the mean time spent outdoors was similar (1.78 h/day and 1.80 h/day, respectively). After lockdown, time spent outdoors decreased to 1.56 h/day (p < 0.001). CONCLUSION: The Dutch lockdown significantly increased digitised nearwork in adolescents but did not affect outdoor exposure. The changes in time spent performing nearwork remained after the lockdown measures had ended. We expect that the COVID-19 pandemic may lead to an increase in myopia prevalence and progression in European children.


Assuntos
COVID-19 , Miopia , Criança , Adolescente , Humanos , Adulto Jovem , Adulto , Refração Ocular , Pandemias , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Miopia/epidemiologia , Europa (Continente) , Assunção de Riscos
3.
Ophthalmic Physiol Opt ; 43(3): 494-504, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36882953

RESUMO

PURPOSE: To study the effectiveness of high-dose atropine for reducing eye growth in Mendelian myopia in children and mice. METHODS: We studied the effect of high-dose atropine in children with progressive myopia with and without a monogenetic cause. Children were matched for age and axial length (AL) in their first year of treatment. We considered annual AL progression rate as the outcome and compared rates with percentile charts of an untreated general population. We treated C57BL/6J mice featuring the myopic phenotype of Donnai-Barrow syndrome by selective inactivation of Lrp2 knock out (KO) and control mice (CTRL) daily with 1% atropine in the left eye and saline in the right eye, from postnatal days 30-56. Ocular biometry was measured using spectral-domain optical coherence tomography. Retinal dopamine (DA) and 3,4-dihydroxyphenylacetic acid (DOPAC) were measured using high-performance liquid chromatography. RESULTS: Children with a Mendelian form of myopia had average baseline spherical equivalent (SE) -7.6 ± 2.5D and AL 25.8 ± 0.3 mm; children with non-Mendelian myopia had average SE -7.3 ± 2.9 D and AL 25.6 ± 0.9 mm. During atropine treatment, the annual AL progression rate was 0.37 ± 0.08 and 0.39 ± 0.05 mm in the Mendelian myopes and non-Mendelian myopes, respectively. Compared with progression rates of untreated general population (0.47 mm/year), atropine reduced AL progression with 27% in Mendelian myopes and 23% in non-Mendelian myopes. Atropine significantly reduced AL growth in both KO and CTRL mice (male, KO: -40 ± 15; CTRL: -42 ± 10; female, KO: -53 ± 15; CTRL: -62 ± 3 µm). The DA and DOPAC levels 2 and 24 h after atropine treatment were slightly, albeit non-significantly, elevated. CONCLUSIONS: High-dose atropine had the same effect on AL in high myopic children with and without a known monogenetic cause. In mice featuring a severe form of Mendelian myopia, atropine reduced AL progression. This suggests that atropine can reduce myopia progression even in the presence of a strong monogenic driver.


Assuntos
Atropina , Miopia Degenerativa , Humanos , Masculino , Feminino , Animais , Camundongos , Ácido 3,4-Di-Hidroxifenilacético , Camundongos Endogâmicos C57BL , Atropina/farmacologia , Refração Ocular , Retina , Progressão da Doença , Soluções Oftálmicas
4.
Ophthalmology ; 128(12): 1681-1688, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34245754

RESUMO

PURPOSE: To investigate the association between smartphone use and refractive error in teenagers using the Myopia app. DESIGN: Cross-sectional population-based study. PARTICIPANTS: A total of 525 teenagers 12 to 16 years of age from 6 secondary schools and from the birth cohort study Generation R participated. METHODS: A smartphone application (Myopia app; Innovattic) was designed to measure smartphone use and face-to-screen distance objectively and to pose questions about outdoor exposure. Participants underwent cycloplegic refractive error and ocular biometry measurements. Mean daily smartphone use was calculated in hours per day and continuous use as the number of episodes of 20 minutes on screen without breaks. Linear mixed models were conducted with smartphone use, continuous use, and face-to-screen distance as determinants and spherical equivalent of refraction (SER) and axial length-to-corneal radius (AL:CR) ratio as outcome measures stratified by median outdoor exposure. MAIN OUTCOME MEASURES: Spherical equivalent of refraction in diopters and AL:CR ratio. RESULTS: The teenagers on average were 13.7 ± 0.85 years of age, and myopia prevalence was 18.9%. During school days, total smartphone use on average was 3.71 ± 1.70 hours/day and was associated only borderline significantly with AL:CR ratio (ß = 0.008; 95% confidence interval [CI], -0.001 to 0.017) and not with SER. Continuous use on average was 6.42 ± 4.36 episodes of 20-minute use without breaks per day and was associated significantly with SER and AL:CR ratio (ß = -0.07 [95% CI, -0.13 to -0.01] and ß = 0.004 [95% CI, 0.001-0.008], respectively). When stratifying for outdoor exposure, continuous use remained significant only for teenagers with low exposure (ß = -0.10 [95% CI, -0.20 to -0.01] and ß = 0.007 [95% CI, 0.001-0.013] for SER and AL:CR ratio, respectively). Smartphone use during weekends was not associated significantly with SER and AL:CR ratio, nor was face-to-screen distance. CONCLUSIONS: Dutch teenagers spent almost 4 hours per day on their smartphones. Episodes of 20 minutes of continuous use were associated with more myopic refractive errors, particularly in those with low outdoor exposure. This study suggested that frequent breaks should become a recommendation for smartphone use in teenagers. Future large longitudinal studies will allow more detailed information on safe screen use in youth.


Assuntos
Aplicativos Móveis , Miopia/etiologia , Smartphone/estatística & dados numéricos , Adolescente , Comprimento Axial do Olho/patologia , Biometria , Criança , Córnea/patologia , Estudos Transversais , Feminino , Humanos , Masculino , Miopia/fisiopatologia , Países Baixos , Refração Ocular/fisiologia , Erros de Refração/etiologia , Erros de Refração/fisiopatologia , Inquéritos e Questionários , Fatores de Tempo
5.
Optom Vis Sci ; 98(12): 1371-1378, 2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-34759237

RESUMO

SIGNIFICANCE: Our findings show that non-Dutch background, lower maternal education, and lower net household income level may be new risk factors for myopia development in the Netherlands. Newly introduced physical activity spaces may not be effective enough in increasing outdoor exposure in children to reduce eye growth. PURPOSE: The aims of this study were to evaluate socioeconomic inequalities in myopia incidence, eye growth, outdoor exposure, and computer use and to investigate if newly introduced physical activity spaces can reduce eye growth in school-aged children. METHODS: Participants (N = 2643) from the Dutch population-based birth cohort Generation R were examined at ages 6 and 9 years. Socioeconomic inequalities in myopia incidence, eye growth, and lifestyle were determined using regression analyses. Information on physical activity spaces located in Rotterdam was obtained. Differences in eye growth between those who became exposed to new physical activity spaces (n = 230) and those nonexposed (n = 1866) were evaluated with individual-level fixed-effects models. RESULTS: Myopia prevalence was 2.2% at age 6 years and 12.2% at age 9 years. Outdoor exposure was 11.4 h/wk at age 6 years and 7.4 h/wk at age 9 years. Computer use was 2.1 h/wk at age 6 years and 5.2 h/wk at age 9 years. Myopia incidence was higher in children with non-Dutch background, and families with lower household income and lower maternal education (odds ratio [OR], 1.081 [95% confidence interval, 1.052 to 1.112]; OR, 1.035 [95% confidence interval, 1.008 to 1.063]; OR, 1.028 [95% confidence interval, 1.001 to 1.055], respectively). Children living <600 m of a physical activity space did not have increased outdoor exposure, except those from families with lower maternal education (ß = 1.33 h/wk; 95% confidence interval, 0.15 to 2.51 h/wk). Newly introduced physical activity spaces were not associated with reduction of eye growth. CONCLUSIONS: Children from socioeconomically disadvantaged families became more often myopic than those from socioeconomically advantaged families. We did not find evidence that physical activity spaces protect against myopia for the population at large, but subgroups may benefit.


Assuntos
Miopia , Criança , Exercício Físico , Humanos , Miopia/epidemiologia , Miopia/etiologia , Miopia/prevenção & controle , Razão de Chances , Prevalência , Instituições Acadêmicas , Fatores Socioeconômicos
6.
Prev Med ; 132: 105988, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31954142

RESUMO

Environmental factors are important in the development of myopia. There is still limited evidence as to whether computer use is a risk factor. The aim of this study is to investigate the association between computer use and myopia in the context of other near work activities. Within the birth cohort study Generation R, we studied 5074 children born in Rotterdam between 2002 and 2006. Refractive error and axial length was measured at ages 6 and 9. Information on computer use and outdoor exposure was obtained at age 3, 6 and 9 years using a questionnaire, and reading time and reading distance were assessed at age 9 years. Myopia prevalence (spherical equivalent ≤-0.5 dioptre) was 11.5% at 9 years. Mean computer use was associated with myopia at age 9 (OR = 1.005, 95% CI = 1.001-1.009), as was reading time and reading distance (OR = 1.031; 95% CI = 1.007-1.055 (5-10 h/wk); OR = 1.113; 95% CI = 1.073-1.155 (>10 h/wk) and OR = 1.072; 95% CI = 1.048-1.097 respectively). The combined effect of near work (computer use, reading time and reading distance) showed an increased odds ratio for myopia at age 9 (OR = 1.072; 95% CI = 1.047-1.098), while outdoor exposure showed a decreased odds ratio (OR = 0.996; 95% CI = 0.994-0.999) and the interaction term was significant (P = 0.036). From our results, we can conclude that within our sample of children, increased computer use is associated with myopia development. The effect of combined near work was decreased by outdoor exposure. The risks of digital devices on myopia and the protection by outdoor exposure should become widely known. Public campaigns are warranted.


Assuntos
Miopia/epidemiologia , Leitura , Tempo de Tela , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Masculino , Miopia/etiologia , Países Baixos/epidemiologia , Prevalência , Fatores de Risco , Inquéritos e Questionários , Acuidade Visual/fisiologia
7.
Optom Vis Sci ; 97(10): 889-897, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33055515

RESUMO

SIGNIFICANCE: E-Scoop, a spectacle lens, provides no clinically relevant improvements on quality of life, visual acuity, and contrast sensitivity for patients with AMD. Because patients' burden is high and therapeutic options are scarce, the incentive to develop effective vision rehabilitation interventions remains. PURPOSE: Patients with AMD experience low quality of life due to vision loss, despite angiogenesis inhibitor interventions that slow down progression for some patients. E-Scoop, which includes low-power prisms, 6% magnification, yellow tint, and antireflection coating, might aid in daily activities by improving distance viewing. Separately, these features have little proven effectiveness. E-Scoop has not been formally tested. This study aimed to determine the impact of E-Scoop on quality of life and the effect on visual acuity and contrast sensitivity. METHODS: In this randomized controlled, open-label trial, 190 of 226 eligible patients were included. The primary outcome was quality of life measured with the 25-item National Eye Institute Visual Function Questionnaire. Secondary outcomes were visual acuity and contrast sensitivity. The follow-up for quality of life was after 6 weeks for controls and after 3 weeks of use for E-Scoop wearers. The visual measures were repeated after 6 weeks, with optimal refractive correction, with and without E-Scoop. RESULTS: Randomization resulted in 99 E-Scoop and 86 control group patients for intention-to-treat analysis. No differential change was found between the E-Scoop and control groups on the 25-item National Eye Institute Visual Function Questionnaire using Rasch analysis (Cohen d = -0.07, P = .53). Statistically significant but small effects were found in favor of E-Scoop on binocular visual acuity (mean difference, 0.05 logMAR [2.5 letters, P < .001]) and contrast sensitivity (mean difference, 0.10 logCS [2 letters, P < .001]). CONCLUSIONS: No effect of E-Scoop on quality of life was found. E-Scoop showed effects that were statistically significant, although not clinically meaningful and within typical variability, on visual measures.


Assuntos
Óculos , Degeneração Macular/terapia , Qualidade de Vida/psicologia , Idoso , Idoso de 80 Anos ou mais , Inibidores da Angiogênese/uso terapêutico , Sensibilidades de Contraste/fisiologia , Feminino , Humanos , Degeneração Macular/tratamento farmacológico , Degeneração Macular/psicologia , Masculino , Perfil de Impacto da Doença , Inquéritos e Questionários , Baixa Visão/psicologia , Baixa Visão/terapia , Acuidade Visual/fisiologia
8.
Ophthalmic Physiol Opt ; 40(2): 230-240, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32202320

RESUMO

PURPOSE: A trend that myopia is becoming gradually more common is shown in studies worldwide. Highest frequencies have been found in East Asian urban populations (96.5%) but also a study in Europe shows that nearly half of the 25-29 year olds has myopia. With the increase in prevalence, high myopia, i.e. a spherical equivalent of -6 or more and an axial length of 26 mm or more is also on the rise. High myopia particularly carries a significant risk of ocular pathology related to the long axial length. This highlights the need for myopia management in children with progressive myopia, in particular progression to high myopia. RECENT FINDINGS: During the last decade, many intervention studies for myopia progression have emerged. Although lifestyle adjustments are effective, pharmacological and optical interventions have shown the highest efficacy on reduction of eye growth. High concentration atropine (0.5%-1.0%) shows the most reduction in axial length progression, but has drawbacks of light sensitivity and loss of accommodation. Nevertheless, when these side effects are mitigated by multifocal photochromatic glasses, the long-term adherence to high dose atropine is high. Lower concentrations of atropine are less effective, but have less side effects. Studies on optical interventions have reported reduction of progression for Ortho-K and multifocal contact lenses, but are in need for replication in larger studies with longer duration. SUMMARY: The field of myopia management is rapidly evolving, and a position on the best approach for daily clinics is desirable. Over the last 10 years, our team of clinical researchers has developed a strategy which involves decision-making based on age, axial length, position on the axial length growth chart, progression rate, risk of high myopia, risk profile based on lifestyle and familial risk, side effects, and individual preference. This personalised approach ensures the most optimal long-term myopia control, and helps fight against visual impairment and blindness in the next generations of elderly.


Assuntos
Lentes de Contato , Gerenciamento Clínico , Óculos , Miopia Degenerativa/terapia , Refração Ocular/fisiologia , Progressão da Doença , Humanos , Miopia Degenerativa/epidemiologia , Miopia Degenerativa/fisiopatologia , Países Baixos , Prevalência
9.
Ophthalmology ; 126(1): 127-136, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30146089

RESUMO

PURPOSE: To identify risk factors for axial length (AL) elongation and incident school myopia. DESIGN: Population-based prospective birth-cohort study. PARTICIPANTS: Four thousand seven hundred thirty-four children examined at 6 and 9 years of age from the Generation R Study in Rotterdam, The Netherlands. METHODS: Axial length and corneal radius (CR) were measured with an IOLMaster 500 and daily life activities and demographic characteristics were obtained by questionnaire. Three thousand three hundred sixty-two children (71%) were eligible for cycloplegic refractive error measurements. Linear regression models on AL elongation were used to create a risk score based on the regression coefficients resulting from environmental and ocular factors. The predictive value of the prediction score for myopia (≤-0.5 diopter) was estimated using receiver operating characteristic curves. To test if regression coefficients differed for baseline AL-to-CR ratio, interaction terms were calculated with baseline AL-to-CR ratio and environmental factors. MAIN OUTCOME MEASURES: Axial length elongation and incident myopia. RESULTS: From 6 to 9 years of age, average AL elongation was 0.21±0.009 mm/year and myopia developed in 223 of 2136 children (10.4%), leading to a myopia prevalence at 9 years of age of 12.0%. Seven parameters were associated independently (P < 0.05) with faster AL elongation: parental myopia, 1 or more books read per week, time spent reading, no participation in sports, non-European ethnicity, less time spent outdoors, and baseline AL-to-CR ratio. The discriminative accuracy for incident myopia based on these risk factors was 0.78. Axial length-to-CR ratio at baseline showed statistically significant interaction with number of books read per week (P < 0.01) and parental myopia (P < 0.01). Almost all predictors showed the highest association with AL elongation in the highest quartile of AL-to-CR ratio; incidental myopia in this group was 24% (124/513). CONCLUSIONS: Determination of a risk score can help to identify school children at high risk of myopia. Our results suggest that behavioral changes can offer protection particularly in these children.


Assuntos
Comprimento Axial do Olho/patologia , Meio Ambiente , Miopia/epidemiologia , Miopia/prevenção & controle , Biometria , Criança , Estudos de Coortes , Córnea/patologia , Feminino , Humanos , Incidência , Atividades de Lazer , Masculino , Países Baixos/epidemiologia , Estudos Prospectivos , Curva ROC , Refração Ocular , Medição de Risco , Fatores de Risco , Inquéritos e Questionários , Testes Visuais
10.
Eur J Epidemiol ; 34(8): 777-784, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30945054

RESUMO

Myopia is a refractive error of the eye caused by a complex interplay between nature and nurture. The aim of this study was to investigate whether environmental risk factors can influence the genetic effect in children developing myopia. A total of 3422 children participating in the birth-cohort study Generation R underwent an extensive eye examination at 9 years with measurements of refractive error and axial length corneal radius ratio (AL/CR). Environmental risk factors were evaluated using a questionnaire, and environmental risk scores (ERS) were calculated using backward regression analyses. Genetic risk scores (GRS) were calculated based on all currently known risk variants for myopia. Gene-environment interaction (G×E) was investigated using linear and logistic regression analyses. The predictive value of G×E and parental myopia was estimated using receiver operating characteristic curves. Myopia prevalence was 12%. Both GRS (P < 0.01) and ERS (P < 0.01) were significantly associated with myopia and AL/CR, as was G×E interaction (P < 0.01 for myopia; P = 0.07 for AL/CR). The predictive value of parental myopia was 0.67 (95% CI 0.65-0.70), similar to the values of GRS (0.67; 95% CI 0.64-0.70; P = 0.98) and ERS (0.69; 95% CI 0.66-0.72; P = 0.98). Adding G×E interaction significantly improved the predictive value to 0.73 (95% CI 0.70-0.75; P < 0.01). This study provides evidence that nature and nurture are equally important for myopia and AL/CR; however, the combination has the strongest influence. Since myopia genes are common in the population, adjustment of lifestyle should be a major focus in the prevention of myopia.


Assuntos
Exposição Ambiental , Interação Gene-Ambiente , Predisposição Genética para Doença , Miopia/genética , Adulto , Comprimento Axial do Olho , Criança , Estudos de Coortes , Feminino , Humanos , Estilo de Vida , Masculino , Miopia/diagnóstico , Miopia/epidemiologia , Vigilância da População , Valor Preditivo dos Testes , Gravidez , Prevalência , Estudos Prospectivos , Fatores de Risco , Acuidade Visual
11.
Ophthalmic Physiol Opt ; 39(4): 245-252, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31236981

RESUMO

PURPOSE: Ocular biometry varies within groups of emmetropic, hyperopic or myopic children. The aim of this study was to quantify the effect of foetal and infant growth on ocular biometry in early childhood, to determine the most important period for this association, and to examine genetic overlap with height and birth weight. METHODS: 5931 children (50.1% girls) from a population-based prospective birth cohort study underwent intra-uterine and infant growth measurements at second and third trimester, and from birth to 72 months. An ophthalmic examination including axial length (mm) and corneal radius of curvature (mm) was performed at 6 years of age. The associations between prenatal and postnatal growth variables and axial length and corneal radius of curvature were assessed with conditional linear regression analyses. Weighted genetic risk scores for birth weight and height were calculated and causality was tested with Mendelian randomisation. RESULTS: Weight and length from mid-pregnancy to 2 years of age were most important prognostic factors for axial length and corneal radius of curvature at age 4.9-9 years (mean 6.2 years S.D. 0.5). For height (Standard deviation score), the association with axial length and corneal radius of curvature was highest for the measurement at 12 months (ß 0.171 p < 0.001 and 0.070 p < 0.001). The genetic height and birth weight risk scores were both significantly associated with ocular biometry. CONCLUSIONS: Larger neonates had longer axial length and greater corneal radius of curvature. Growth during pregnancy and 2 years postnatally is the most important period underlying this association and may be partly genetically determined by genes associated with height.


Assuntos
Comprimento Axial do Olho/anatomia & histologia , Peso ao Nascer/fisiologia , Desenvolvimento Infantil/fisiologia , Córnea/anatomia & histologia , Emetropia/fisiologia , Erros de Refração/embriologia , Biometria , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos , Refração Ocular , Análise de Regressão
13.
Genet Epidemiol ; 40(8): 756-766, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27611182

RESUMO

Previous studies have identified many genetic loci for refractive error and myopia. We aimed to investigate the effect of these loci on ocular biometry as a function of age in children, adolescents, and adults. The study population consisted of three age groups identified from the international CREAM consortium: 5,490 individuals aged <10 years; 5,000 aged 10-25 years; and 16,274 aged >25 years. All participants had undergone standard ophthalmic examination including measurements of axial length (AL) and corneal radius (CR). We examined the lead SNP at all 39 currently known genetic loci for refractive error identified from genome-wide association studies (GWAS), as well as a combined genetic risk score (GRS). The beta coefficient for association between SNP genotype or GRS versus AL/CR was compared across the three age groups, adjusting for age, sex, and principal components. Analyses were Bonferroni-corrected. In the age group <10 years, three loci (GJD2, CHRNG, ZIC2) were associated with AL/CR. In the age group 10-25 years, four loci (BMP2, KCNQ5, A2BP1, CACNA1D) were associated; and in adults 20 loci were associated. Association with GRS increased with age; ß = 0.0016 per risk allele (P = 2 × 10-8 ) in <10 years, 0.0033 (P = 5 × 10-15 ) in 10- to 25-year-olds, and 0.0048 (P = 1 × 10-72 ) in adults. Genes with strongest effects (LAMA2, GJD2) had an early effect that increased with age. Our results provide insights on the age span during which myopia genes exert their effect. These insights form the basis for understanding the mechanisms underlying high and pathological myopia.


Assuntos
Conexinas/genética , Estudo de Associação Genômica Ampla , Laminina/genética , Miopia/genética , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Adulto , Alelos , Biometria , Criança , Feminino , Loci Gênicos , Genótipo , Humanos , Masculino , Fatores de Risco , Adulto Jovem , Proteína delta-2 de Junções Comunicantes
14.
Eur J Epidemiol ; 31(5): 491-9, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-26955828

RESUMO

The aim of the study was to investigate the relationship between serum 25(OH)D levels and axial length (AL) and myopia in 6-year-old children. A total of 2666 children aged 6 years participating in the birth-cohort study Generation R underwent a stepwise eye examination. First, presenting visual acuity (VA) and AL were performed. Second, automated cycloplegic refraction was measured if LogMAR VA > 0.1. Serum 25-hydroxyvitamin D [25(OH)D] was determined from blood using liquid chromatography/tandem mass spectrometry. Vitamin D related SNPs were determined with a SNP array; outdoor exposure was assessed by questionnaire. The relationships between 25(OH)D and AL or myopia were investigated using linear and logistic regression analysis. Average 25(OH)D concentration was 68.8 nmol/L (SD ± 27.5; range 4-211); average AL 22.35 mm (SD ± 0.7; range 19.2-25.3); and prevalence of myopia 2.3 % (n = 62). After adjustment for covariates, 25(OH)D concentration (per 25 nmol/L) was inversely associated with AL (ß -0.043; P < 0.01), and after additional adjusting for time spent outdoors (ß -0.038; P < 0.01). Associations were not different between European and non-European children (ß -0.037 and ß -0.039 respectively). Risk of myopia (per 25 nmol/L) was OR 0.65 (95 % CI 0.46-0.92). None of the 25(OH)D related SNPs showed an association with AL or myopia. Lower 25(OH)D concentration in serum was associated with longer AL and a higher risk of myopia in these young children. This effect appeared independent of outdoor exposure and may suggest a more direct role for 25(OH)D in myopia pathogenesis.


Assuntos
Comprimento Axial do Olho , Estilo de Vida , Miopia/epidemiologia , Deficiência de Vitamina D/epidemiologia , Vitamina D/análogos & derivados , Vitaminas/sangue , Criança , Estudos de Coortes , Meio Ambiente , Exercício Físico , Feminino , Humanos , Atividades de Lazer , Masculino , Miopia/sangue , Miopia/complicações , Países Baixos/epidemiologia , Vigilância da População , Prevalência , Vitamina D/sangue , Deficiência de Vitamina D/sangue
15.
Invest Ophthalmol Vis Sci ; 64(6): 2, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-37126362

RESUMO

Myopia typically starts and progresses during childhood, but onset and progression can occur during adulthood. The goals of this review are to summarize published data on myopia onset and progression in young adults, aged 18 to 40 years, to characterize myopia in this age group, to assess what is currently known, and to highlight the gaps in the current understanding. Specifically, the peer-reviewed literature was reviewed to: characterize the timeline and age of stabilization of juvenile-onset myopia; estimate the frequency of adult-onset myopia; evaluate the rate of myopia progression in adults, regardless of age of onset, both during the college years and later; describe the rate of axial elongation in myopic adults; identify risk factors for adult onset and progression; report myopia progression and axial elongation in adults who have undergone refractive surgery; and discuss myopia management and research study design. Adult-onset myopia is common, representing a third or more of all myopia in western populations, but less in East Asia, where onset during childhood is high. Clinically meaningful myopia progression continues in early adulthood and may average 1.00 diopters (D) between 20 and 30 years. Higher levels of myopia are associated with greater absolute risk of myopia-related ocular disease and visual impairment, and thus myopia in this age group requires ongoing management. Modalities established for myopia control in children would be options for adults, but it is difficult to predict their efficacy. The feasibility of studies of myopia control in adults is limited by the long duration required.


Assuntos
Miopia , Refração Ocular , Criança , Humanos , Adulto Jovem , Adulto , Progressão da Doença , Miopia/etiologia , Olho , Ásia Oriental
16.
Invest Ophthalmol Vis Sci ; 64(15): 41, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38153751

RESUMO

Purpose: The purpose of this study was to determine the association between eye shape and volume measured with magnetic resonance imaging (MRI) and optical biometry and with spherical equivalent (SE) in children. Methods: For this study, there were 3637 10-year-old children from a population-based birth-cohort study that underwent optical biometry (IOL-master 500) and T2-weighted MRI scanning (height, width, and volume). Cycloplegic refractive error was determined by automated refraction. The MRI images of the eyes were segmented using an automated algorithm combining atlas registration with voxel classification. Associations among optical biometry, anthropometry, MRI measurements, and RE were tested using Pearson correlation. Differences between refractive error groups were tested using ANOVA. Results: The mean volume of the posterior segment was 6350 (±680) mm3. Myopic eyes (SE ≤ -0.5 diopters [D]) had 470 mm3 (P < 0.001) and 970 mm3 (P < 0.001) larger posterior segment volume than emmetropic and hyperopic eyes (SE ≥ +2.0D), respectively. The majority of eyes (77.1%) had an oblate shape, but 47.4% of myopic eyes had a prolate shape versus 3.9% of hyperopic eyes. The correlation between SE and MRI-derived posterior segment length (r -0.51, P < 0.001) was stronger than the correlation with height (r -0.30, P < 0.001) or width of the eye (r -0.10, P < 0.001). Conclusions: In this study, eye shape at 10 years of age was predominantly oblate, even in eyes with myopia. Of all MRI measurements, posterior segment length was most prominently associated with SE. Whether eye shape predicts future myopia development or progression should be investigated in longitudinal studies.


Assuntos
Hiperopia , Miopia , Erros de Refração , Criança , Humanos , Estudos de Coortes , Olho/diagnóstico por imagem , Imageamento por Ressonância Magnética , Miopia/diagnóstico
17.
Eur J Ophthalmol ; : 11206721231219532, 2023 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-38087768

RESUMO

Myopia is becoming increasingly common in young generations all over the world, and it is predicted to become the most common cause of blindness and visual impairment in later life in the near future. Because myopia can cause serious complications and vision loss, it is critical to create and prescribe effective myopia treatment solutions that can help prevent or delay the onset and progression of myopia. The scientific understanding of myopia's causes, genetic background, environmental conditions, and various management techniques, including therapies to prevent or postpone its development and slow its progression, is rapidly expanding. However, some significant information gaps exist on this subject, making it difficult to develop an effective intervention plan. As with the creation of this present algorithm, a compromise is to work on best practices and reach consensus among a wide number of specialists. The quick rise in information regarding myopia management may be difficult for the busy eye care provider, but it necessitates a continuing need to evaluate new research and implement it into daily practice. To assist eye care providers in developing these strategies, an algorithm has been proposed that covers all aspects of myopia mitigation and management. The algorithm aims to provide practical assistance in choosing and developing an effective myopia management strategy tailored to the individual child. It incorporates the latest research findings and covers a wide range of modalities, from primary, secondary, and tertiary myopia prevention to interventions that reduce the progression of myopia.

18.
Optom Vis Sci ; 89(11): e44-9, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23069721

RESUMO

PURPOSE: To describe the frequency of refractive errors and amblyopia in unscreened children aged 2 months to 12 years from a rural town in Poland. METHODS: Five hundred ninety-one children were identified by medical records and examined in a standardized manner.Visual acuity was measured using LogMAR charts; refractive error was determined using retinoscopy or autorefraction after cycloplegia. Myopia was defined as spherical equivalent (SE) ≤ -0.50 D, emmetropia as SE between -0.5 D and+0.5 D, mild hyperopia as SE between +0.5 D and +2.0 D, and high hyperopia as SE Q+2.0 D. Amblyopia was classified as best-corrected visual acuity ≥0.3 (≤ 20/40) LogMAR, in combination with a 2 LogMAR line difference between the two eyes and the presence of an amblyogenic factor. RESULTS: Refractive errors ranged from 84.2% in children aged up to 2 years to 75.5% in those aged 10 to 12 years.Refractive error showed a myopic shift with age; myopia prevalence increased from 2.2% in those aged 6 to 7 years to 6.3% in those aged 10 to 12 years. Of the examined children, 77 (16.3%) had refractive errors, with visual loss; of these,60 (78%) did not use corrections. The prevalence of amblyopia was 3.1%, and refractive error attributed to the amblyopiain 9 of 13 (69%) children. CONCLUSION: Refractive errors are common in Caucasian children and often remain undiagnosed. The prevalence of amblyopia was three times higher in this unscreened population compared with screened populations. Greater awarenessof these common treatable visual conditions in children is warranted.


Assuntos
Ambliopia/epidemiologia , Refração Ocular , Erros de Refração/epidemiologia , População Rural , Seleção Visual/métodos , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Polônia/epidemiologia , Prevalência , Acuidade Visual
19.
Br J Ophthalmol ; 106(6): 820-824, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-33495159

RESUMO

PURPOSE: Data on myopia progression during its entire course are scarce. The aim of this study is to investigate myopia progression in Europeans as a function of age and degree of myopia from first prescription to final refractive error. METHODS: The Drentse Refractive Error and Myopia Study assessed data from a branch of opticians in the Netherlands from 1985 onwards in a retrospective study. First pair of glasses prescribed was defined as a spherical equivalent of refraction (SER) ≤-0.5 D to ≥-3.0 D. Subjects with prescriptions at an interval of at least 1 year were included in the analysis. RESULTS: A total of 2555 persons (57.3% female) met the inclusion criteria. Those with first prescription before the age of 10 years showed the strongest progression (-0.50 D; IQR: -0.75 to -0.19) and a significantly (p<0.001) more negative median final SER (-4.48 D; IQR: -5.37 to -3.42). All children who developed SER ≤-3 D at 10 years were highly myopic (SER ≤-6D) as adults, children who had SER between -1.5 D and -3 D at 10 years had 46.0% risk of high myopia, and children with SER between -0.5 D and -1.5 D had 32.6% risk of high myopia. Myopia progression diminished with age; all refractive categories stabilised after age 15 years except for SER ≤-5 D who progressed up to -0.25 D annually until age 21 years. CONCLUSION: Our trajectories of the natural course of myopia progression may serve as a guide for myopia management in European children. SER at 10 years is an important prognostic indicator and will help determine treatment intensity.


Assuntos
Miopia , Erros de Refração , Adolescente , Adulto , Criança , Di-Hidrotaquisterol , Progressão da Doença , Feminino , Humanos , Masculino , Miopia/epidemiologia , Miopia/terapia , Refração Ocular , Estudos Retrospectivos , Adulto Jovem
20.
J Craniofac Surg ; 22(1): 135-8, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21187763

RESUMO

PURPOSE: To determine the existence of a correlation between the vertical angle of strabismus and the vertical angle between the orbital axes in nonsyndromic plagiocephaly in childhood. METHODS: Patients were included when diagnosed with plagiocephaly. Orthoptic measurements showed a vertical strabismus and three-dimensional computed tomographic (CT) imaging of the skull was available. Patients were excluded if plagiocephaly was part of a syndrome or if any surgical intervention had taken place before our measurements. Three-dimensional CT imaging was used to calculate the vertical angle between the orbital axes in 3 reference planes (VAO) perpendicular to a line of reference through the lower borders of the maxilla (VAOmax), both auditory canals (VAOaud), and the lower points of the external occipital protuberances (VAOocc). RESULTS: Fourteen patients were included (mean age, 14 mo). Three-dimensional CT measurements showed a mean (SD) VAOmax of 1.70 (2.31) degrees, VAOaud of -1.54 (1.46) degrees, and VAOocc of -2.06 (4.29) degrees (a negative value indicates that the eye on the affected side was situated lower in the head). The mean vertical angle of strabismus was -2.39 (4.69) degrees in gaze toward the affected side, 3.66 (3.77) degrees in gaze ahead, and 8.14 (5.63) degrees in gaze toward the nonaffected side. The Pearson test showed no significant correlations. CONCLUSIONS: The clinical observation that vertical strabismus in adult plagiocephaly is correlated with the vertical angle of the orbital axes could not be confirmed in young children.


Assuntos
Órbita/anatomia & histologia , Plagiocefalia/complicações , Estrabismo/etiologia , Feminino , Humanos , Imageamento Tridimensional , Lactente , Masculino , Órbita/diagnóstico por imagem , Plagiocefalia/diagnóstico por imagem , Tomografia Computadorizada por Raios X
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