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46 results on '"Cumberland, Phillippa"'

1. Study of Optimal Perimetric Testing in Children (OPTIC): evaluation of kinetic approaches in childhood neuro-ophthalmic disease

Author

Patel, Dipesh E, Cumberland, Phillippa M, Walters, Bronwen C, Cortina-Borja, Mario, Rahi, Jugnoo S, Khaw, Peng Tee, Walters, Bronwen, Russell-Eggitt, Isabelle, Timms, Chris, Brookes, John, Moore, Anthony, Papadopoulos, Maria, Garway-Heath, David, Viswanathan, Ananth, Liasis, Alki, and Crabb, David

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Pediatric, Neurosciences, Clinical Research, Adolescent, Child, Child, Preschool, Cross-Sectional Studies, Feasibility Studies, Female, Follow-Up Studies, Humans, Infant, Male, Prospective Studies, Reproducibility of Results, Vision Disorders, Visual Acuity, Visual Field Tests, Visual Fields, OPTIC study group, child health, diagnostic tests/investigation, field of vision, visual pathway, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Clinical sciences, Ophthalmology and optometry
Abstract

AimsWe 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.MethodsChildren 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.ResultsThirty 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

Published
2019

4. Do visually impaired children and their parents agree on the child's vision-related quality of life and functional vision?

Author

Tadić, Valerija, Cumberland, Phillippa M, Lewando-Hundt, Gillian, Rahi, Jugnoo S, Dale, Naomi, Khaw, Peng Tee, Moore, Anthony, Salt, Alison, Taylor, David, Brown, Corie, Craig, Marianne, Ennals, Christine, Keeley, Sarah, Thompson, Lucy, Osborne, Jackie, Sobti, Nidhi, Thomas, Paula, and Thompson, Jude

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Pediatric, Neurosciences, Clinical Research, Eye, Adolescent, Adult, Child, Female, Health Status, Humans, Parent-Child Relations, Parents, Quality of Life, Sickness Impact Profile, Surveys and Questionnaires, Vision Disorders, Vision, Ocular, Visual Acuity, Visually Impaired Persons, vision-related quality of life group, Child health, Epidemiology, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Clinical sciences, Ophthalmology and optometry
Abstract

AimsTo investigate agreement between children with visual impairment (VI) and their parents on their ratings of the child's vision-related quality of life (VQoL) and functional vision (FV) using two novel self-report patient-reported outcome measures developed for this population.Methods99 children aged 10-15 years (mean age=12.2, SD=1.9) with VI (best corrected acuity (logarithm of the minimum angle of resolution) 0.50 or worse in better eye) and their parents participated in a national postal survey, completing the child and proxy versions of our novel instruments assessing VQoL and FV of children with VI-the vision-related quality of life instrument for children and young people (VQoL_CYP) and the functional vision questionnaire for children and young people (FVQ_CYP), respectively. Parent-child agreement was investigated using the Bland-Altman (BA) method. Variation across key sociodemographic and clinical characteristics was examined using the Intraclass Correlation Coefficient.ResultsAverage parental ratings of their child's VQoL and FV were significantly lower than the children's own ratings, but the range of disagreement was wide, with parents both overestimating and underestimating their child's VQoL (mean score difference=5.7, BA limits of agreement (LOA): lower -22.10 (CI 95% -24.61 to 19.59) and upper 33.50 (CI 95% 30.99 to 36.01)), but more consistently underestimating the child's FV (mean score difference=-11.8, BA LOA: lower -39.60 (CI 95% -42.12 to 37.08) and upper 16 (CI 95% 13.48 to 18.52)). There was variation in agreement by some child characteristics, including vision level, time of onset and course of VI progression.ConclusionsVisually impaired children and their parents perceive the broader impact of living with VI very differently. There is value in routine capture of information independently from children and their parents for comprehensively gauging the impact of childhood VI and tailoring appropriate interventions.

Published
2017

5. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

Author

Simpson, Claire L, Wojciechowski, Robert, Oexle, Konrad, Murgia, Federico, Portas, Laura, Li, Xiaohui, Verhoeven, Virginie JM, Vitart, Veronique, Schache, Maria, Hosseini, S Mohsen, Hysi, Pirro G, Raffel, Leslie J, Cotch, Mary Frances, Chew, Emily, Klein, Barbara EK, Klein, Ronald, Wong, Tien Yin, van Duijn, Cornelia M, Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Wang, Jie Jin, DCCT/EDIC Research Group, Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C, Vingerling, Johannes R, Döring, Angela, Bettecken, Thomas, Bencic, Goran, Gieger, Christian, Wichmann, H-Erich, Wilson, James F, Venturini, Cristina, Fleck, Brian, Cumberland, Phillippa M, Rahi, Jugnoo S, Hammond, Chris J, Hayward, Caroline, Wright, Alan F, Paterson, Andrew D, Baird, Paul N, Klaver, Caroline CW, Rotter, Jerome I, Pirastu, Mario, Meitinger, Thomas, Bailey-Wilson, Joan E, and Stambolian, Dwight

Subjects
DCCT/EDIC Research Group, Eye, Humans, Hyperopia, Myopia, Genetic Predisposition to Disease, Genetic Markers, Age of Onset, Linkage Disequilibrium, Phenotype, Polymorphism, Single Nucleotide, Alleles, Adult, Aged, Aged, 80 and over, Middle Aged, European Continental Ancestry Group, Female, Male, Genetic Association Studies, and over, Polymorphism, Single Nucleotide, General Science & Technology
Abstract

Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25×10(-8)), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11×10(-11)) and 8q12 (minimum p value 1.82×10(-11)) previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error across the distribution.

Published
2014

7. Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

Author

Musolf, Anthony M., Haarman, Annechien E.G., Luben, Robert N., Ong, Jue Sheng, Patasova, Karina, Trapero, Rolando Hernandez, Marsh, Joseph, Jain, Ishika, Jain, Riya, Wang, Paul Zhiping, Lewis, Deyana D., Tedja, Milly S., Iglesias, Adriana I., Li, Hengtong, Cowan, Cameron S., Baird, Paul Nigel, Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Guggenheim, Jeremy A., Guo, Xiaobo, Han, Xikun, He, Mingguang, Hewitt, Alex W., Hoang, Quan V., Iyengar, Sudha K., Jonas, Jost B., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Lass, Jonathan H., Wang, Ya Xing, van Duijn, Cornelia M., Verhoeven, Virginie J.M., Klaver, Caroline C.W., Bailey-Wilson, Joan E., Musolf, Anthony M., Haarman, Annechien E.G., Luben, Robert N., Ong, Jue Sheng, Patasova, Karina, Trapero, Rolando Hernandez, Marsh, Joseph, Jain, Ishika, Jain, Riya, Wang, Paul Zhiping, Lewis, Deyana D., Tedja, Milly S., Iglesias, Adriana I., Li, Hengtong, Cowan, Cameron S., Baird, Paul Nigel, Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Guggenheim, Jeremy A., Guo, Xiaobo, Han, Xikun, He, Mingguang, Hewitt, Alex W., Hoang, Quan V., Iyengar, Sudha K., Jonas, Jost B., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Lass, Jonathan H., Wang, Ya Xing, van Duijn, Cornelia M., Verhoeven, Virginie J.M., Klaver, Caroline C.W., and Bailey-Wilson, Joan E.

Abstract

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopia (CREAM). The dataset consisted of over 27,000 total subjects from five cohorts of Indo-European and Eastern Asian ethnicity. We identified 129 unique genes associated with refractive error, many of which were replicated in multiple cohorts. Our best novel candidates included the retina expressed PDCD6IP, the circadian rhythm gene PER3, and P4HTM, which affects eye morphology. Future work will include functional studies and validation. Identification of genes contributing to refractive error and future understanding of their function may lead to better treatment and prevention of refractive errors, which themselves are important risk factors for various blinding conditions.

Published
2023

8. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

Author

Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Höhn, René, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Mäkelä, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beaté, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polašek, Ozren, Campbell, Harry, Bencic, Goran, Wright, Alan F., Wedenoja, Juho, Zeller, Tanja, Schillert, Arne, Mirshahi, Alireza, Lackner, Karl, Yip, Shea Ping, Yap, Maurice K. H., Ried, Janina S., Gieger, Christian, Murgia, Federico, Wilson, James F., Fleck, Brian, Yazar, Seyhan, Vingerling, Johannes R., Hofman, Albert, Uitterlinden, André, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Oostra, Ben A., Zhou, Xin, Teo, Yik-Ying, Tai, E. Shyong, Vithana, Eranga, Barathi, Veluchamy, Zheng, Yingfeng, Siantar, Rosalynn Grace, Neelam, Kumari, Shin, Youchan, Lam, Janice, Yonova-Doing, Ekaterina, Venturini, Cristina, Hosseini, S. Mohsen, Wong, Hoi-Suen, Lehtimäki, Terho, Kähönen, Mika, Raitakari, Olli, Timpson, Nicholas J., Evans, David M., Khor, Chiea-Chuen, Aung, Tin, Young, Terri L., Mitchell, Paul, Klein, Barbara, van Duijn, Cornelia M., Meitinger, Thomas, Jonas, Jost B., Baird, Paul N., Mackey, David A., Wong, Tien Yin, Saw, Seang-Mei, Pärssinen, Olavi, Stambolian, Dwight, Hammond, Christopher J., Klaver, Caroline C. W., Williams, Cathy, Paterson, Andrew D., Bailey-Wilson, Joan E., Guggenheim, Jeremy A., and The CREAM Consortium

Published
2015
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13. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Author

Verhoeven, Virginie J. M., Hysi, Pirro G., Saw, Seang-Mei, Vitart, Veronique, Mirshahi, Alireza, Guggenheim, Jeremy A., Cotch, Mary Frances, Yamashiro, Kenji, Baird, Paul N., Mackey, David A., Wojciechowski, Robert, Ikram, M. Kamran, Hewitt, Alex W., Duggal, Priya, Janmahasatian, Sarayut, Khor, Chiea-Chuen, Fan, Qiao, Zhou, Xin, Young, Terri L., Tai, E-Shyong, Goh, Liang-Kee, Li, Yi-Ju, Aung, Tin, Vithana, Eranga, Teo, Yik-Ying, Tay, Wanting, Sim, Xueling, Rudan, Igor, Hayward, Caroline, Wright, Alan F., Polasek, Ozren, Campbell, Harry, Wilson, James F., Fleck, Brian W., Nakata, Isao, Yoshimura, Nagahisa, Yamada, Ryo, Matsuda, Fumihiko, Ohno-Matsui, Kyoko, Nag, Abhishek, McMahon, George, Pourcain, Beate St., Lu, Yi, Rahi, Jugnoo S., Cumberland, Phillippa M., Bhattacharya, Shomi, Simpson, Claire L., Atwood, Larry D., Li, Xiaohui, Raffel, Leslie J., Murgia, Federico, Portas, Laura, Despriet, Dominiek D. G., van Koolwijk, Leonieke M. E., Wolfram, Christian, Lackner, Karl J., Tönjes, Anke, Mägi, Reedik, Lehtimäki, Terho, Kähönen, Mika, Esko, Tõnu, Metspalu, Andres, Rantanen, Taina, Pärssinen, Olavi, Klein, Barbara E., Meitinger, Thomas, Spector, Timothy D., Oostra, Ben A., Smith, Albert V., de Jong, Paulus T. V. M., Hofman, Albert, Amin, Najaf, Karssen, Lennart C., Rivadeneira, Fernando, Vingerling, Johannes R., Eiríksdóttir, Guðný, Gudnason, Vilmundur, Döring, Angela, Bettecken, Thomas, Uitterlinden, André G., Williams, Cathy, Zeller, Tanja, Castagné, Raphaële, Oexle, Konrad, van Duijn, Cornelia M., Iyengar, Sudha K., Mitchell, Paul, Wang, Jie Jin, Höhn, René, Pfeiffer, Norbert, Bailey-Wilson, Joan E., Stambolian, Dwight, Wong, Tien-Yin, Hammond, Christopher J., and Klaver, Caroline C. W.

Published
2012
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14. Meta-analysis of 542,934 subjects of European ancestry identifies 336 novel genes and mechanisms predisposing to refractive error and myopia

Author

Hysi, Pirro G., Choquet, Helene, Khawaja, Anthony P., Wojciechowski, Robert, Tedja, Milly S., Yin, Jie, Simcoe, Mark J., Patasova, Karina, Mahroo, Omar A., Thai, Khanh K., Cumberland, Phillippa M., Melles, Ronald B., Verhoeven, Virginie J. M., Vitart, Veronique, Segre, Ayellet, Stone, Richard A., Wareham, Nick, Hewitt, Alex W., Mackey, David A., Klaver, Caroline C. W., McGregor, Stuart, The Consortium for Refractive Error and Myopia, Peng Khaw, Foster, Paul J., UK Eye and Vision Consortium, ., Guggenheim, Jeremy, andMe Inc, ., Rahi, Jugnoo S., Jorgenson, Eric, and Hammond, Christopher J.

Subjects
genetic structures, eye diseases
Abstract

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.

Published
2020

15. Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Author

Fan, Qiao, Pozarickij, Alfred, Tan, Nicholas Y. Q., Guo, Xiaobo, Verhoeven, Virginie J. M., Vitart, Veronique, Guggenheim, Jeremy A., Miyake, Masahiro, Tideman, J. Willem L., Khawaja, Anthony P., Zhang, Liang, MacGregor, Stuart, Höhn, René, Chen, Peng, Biino, Ginevra, Wedenoja, Juho, Saffari, Seyed Ehsan, Tedja, Milly S., Xie, Jing, Lanca, Carla, Wang, Ya Xing, Sahebjada, Srujana, Mazur, Johanna, Mirshahi, Alireza, Martin, Nicholas G., Yazar, Seyhan, Pennell, Craig E., Yap, Maurice, Haarman, Annechien E. G., Enthoven, Clair A., Polling, JanRoelof, Bailey-Wilson, Joan E., Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Gharahkhani, Puya, Iglesias, Adriana I., Haller, Toomas, Han, Xikun, Hoang, Quan, Igo, Robert P., Iyengar, Sudha K., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Klein, Ronald, Lass, Jonathan H., Lee, Kris, Lehtimäki, Terho, Lewis, Deyana D., Li, Qing, Li, Shi-Ming, Lyytikäinen, Leo-Pekka, Meguro, Akira, Metspalu, Andres, Middlebrooks, Candace D., Mizuki, Nobuhisa, Musolf, Anthony M., Nickels, Stefan, Oexle, Konrad, Pang, Chi Pui, Paterson, Andrew D., Rahi, Jugnoo S., Raitakari, Olli, Rudan, Igor, Stambolian, Dwight, Simpson, Claire L., Wang, Ningli, Bin Wei, Wen, Williams, Katie M., Wilson, James F., Wojciechowski, Robert, Yamashiro, Kenji, Yam, Jason C. S., Zhou, Xiangtian, Aslam, Tariq, Barman, Sarah A., Barrett, Jenny H., Bishop, Paul, Blows, Peter, Bunce, Catey, Carare, Roxana O., Chakravarthy, Usha, Chan, Michelle, Chua, Sharon Y. L., Crabb, David P., Cumberland, Philippa M., Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew D., Egan, Cathy, Ennis, Sarah, Fruttiger, Marcus, Gallacher, John E. J., Garway-Heath, David F., Gibson, Jane, Gore, Dan, Hardcastle, Alison, Harding, Simon P., Hogg, Ruth E., Keane, Pearse A., Khaw, Sir Peng T., Lascaratos, Gerassimos, Lotery, Andrew J., Macgillivray, Tom, Mackie, Sarah, Martin, Keith, McGaughey, Michelle, McGuinness, Bernadette, McKay, Gareth J., McKibbin, Martin, Mitry, Danny, Moore, Tony, Morgan, James E., Muthy, Zaynah A., O’Sullivan, Eoin, Owen, Chris G., Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Rudnikca, Alicja R., Self, Jay, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Vernon, Stephen A., Viswanathan, Ananth C., Williams, Katie, Woodside, Jayne V., Yates, Max M., Yip, Jennifer, Zheng, Yalin, Hewitt, Alex W., Jaddoe, Vincent W. V., van Duijn, Cornelia M., Hayward, Caroline, Polasek, Ozren, Tai, E-Shyong, Yoshikatsu, Hosoda, Hysi, Pirro G., Young, Terri L., Tsujikawa, Akitaka, Wang, Jie Jing, Mitchell, Paul, Pfeiffer, Norbert, Pärssinen, Olavi, Foster, Paul J., Fossarello, Maurizio, Yip, Shea Ping, Williams, Cathy, Hammond, Christopher J., Jonas, Jost B., He, Mingguang, Mackey, David A., Wong, Tien-Yin, Klaver, Caroline C. W., Saw, Seang-Mei, Baird, Paul N., and Cheng, Ching-Yu

Subjects
genetic structures, likinäköisyys, sense organs, geneettiset tekijät, eye diseases
Abstract

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia. peerReviewed

Published
2020

18. Temporal trends in frequency, type and severity of myopia and associations with key environmental risk factors in the UK: Findings from the UK Biobank Study.

Author

Cumberland, Phillippa M., Bountziouka, Vasiliki, Hammond, Christopher J., Hysi, Pirro G., and Rahi, Jugnoo S.

Subjects
*ENVIRONMENTAL risk, *MYOPIA, *GENOTYPE-environment interaction, *EYE diseases, *PSEUDOPOTENTIAL method
Abstract

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. [ABSTRACT FROM AUTHOR]

Published
2022
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24. The European Eye Epidemiology spectral-domain optical coherence tomography classification of macular diseases for epidemiological studies

Author

Gattoussi, Sarra, Gattoussi, Sarra, Buitendijk, Gabrielle H. S., Peto, Tunde, Leung, Irene, Schmitz-Valckenberg, Steffen, Oishi, Akio, Wolf, Sebastian, Deak, Gabor, Delcourt, Ccile, Klaver, Caroline C. W., Korobelnik, Jean-Fracnois, Acar, Niyazi, Anas-Tosopoulos, Eleftherios, Azuara-Blanco, Augusto, Berendschot, Tos, Bertelsen, Geir, Binquet, Christine, Bird, Alan, Bobak, Martin, Larsen, Morten Bogelund, Boon, Camiel, Bourne, Rupert, Bretillon, Lionel, Broe, Rebecca, Bron, Alain, Buitendijk, Gabrielle, Cachulo, Maria Luz, Capuano, Vittorio, Carriere, Isabelle, Chakravarthy, Usha, Chan, Michelle, Chang, Petrus, Colijn, Johanna, Cree, Angela, Creuzot-Garcher, Catherine, Cumberland, Phillippa, Cunha-Vaz, Jose, Daien, Vincent, De Jong, Eiko, Delcourt, Cecile, Delyfer, Marie-Noelle, den Hollan-Der, Anneke, Dietzel, Martha, Erke, Maja Gran, Faria, Pedro, Farinha, Claudia, Fauser, Sascha, Finger, Robert, Gorgels, Theo, European Eye Epidemiology E3, Gattoussi, Sarra, Gattoussi, Sarra, Buitendijk, Gabrielle H. S., Peto, Tunde, Leung, Irene, Schmitz-Valckenberg, Steffen, Oishi, Akio, Wolf, Sebastian, Deak, Gabor, Delcourt, Ccile, Klaver, Caroline C. W., Korobelnik, Jean-Fracnois, Acar, Niyazi, Anas-Tosopoulos, Eleftherios, Azuara-Blanco, Augusto, Berendschot, Tos, Bertelsen, Geir, Binquet, Christine, Bird, Alan, Bobak, Martin, Larsen, Morten Bogelund, Boon, Camiel, Bourne, Rupert, Bretillon, Lionel, Broe, Rebecca, Bron, Alain, Buitendijk, Gabrielle, Cachulo, Maria Luz, Capuano, Vittorio, Carriere, Isabelle, Chakravarthy, Usha, Chan, Michelle, Chang, Petrus, Colijn, Johanna, Cree, Angela, Creuzot-Garcher, Catherine, Cumberland, Phillippa, Cunha-Vaz, Jose, Daien, Vincent, De Jong, Eiko, Delcourt, Cecile, Delyfer, Marie-Noelle, den Hollan-Der, Anneke, Dietzel, Martha, Erke, Maja Gran, Faria, Pedro, Farinha, Claudia, Fauser, Sascha, Finger, Robert, Gorgels, Theo, and European Eye Epidemiology E3

Abstract

Purpose The aim of the European Eye Epidemiology (E3) consortium was to develop a spectral-domain optical coherence tomography (SD-OCT)-based classification for macular diseases to standardize epidemiological studies. Methods A European panel of vitreoretinal disease experts and epidemiologists belonging to the E3 consortium was assembled to define a classification for SD-OCT imaging of the macula. A series of meeting was organized, to develop, test and finalize the classification. First, grading methods used by the different research groups were presented and discussed, and a first version of classification was proposed. This first version was then tested on a set of 50 SD-OCT images in the Bordeaux and Rotterdam centres. Agreements were analysed and discussed with the panel of experts and a final version of the classification was produced. Results Definitions and classifications are proposed for the structure assessment of the vitreomacular interface (visibility of vitreous interface, vitreomacular adhesion, vitreomacular traction, epiretinal membrane, full-thickness macular hole, lamellar macular hole, macular pseudo-hole) and of the retina (retinoschisis, drusen, pigment epithelium detachment, hyper-reflective clumps, retinal pigment epithelium atrophy, intraretinal cystoid spaces, intraretinal tubular changes, subretinal fluid, subretinal material). Classifications according to size and location are defined. Illustrations of each item are provided, as well as the grading form. Conclusion The E3 SD-OCT classification has been developed to harmonize epidemiological studies. This homogenization will allow comparing and sharing data collection between European and international studies.

Published
2019

25. Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration Evidence from the EYE-RISK and European Eye Epidemiology Consortia

Author

Colijn, Johanna M., den Hollander, Anneke, I, Demirkan, Ayse, Cougnard-Gregoire, Audrey, Verzijden, Timo, Kersten, Eveline, Meester-Smoor, Magda A., Merle, Benedicte M. J., Papageorgiou, Grigorios, Ahmad, Shahzad, Mulder, Monique T., Costa, Miguel Angelo, Benlian, Pascale, Bertelsen, Geir, Bron, Alain M., Claes, Birte, Creuzot-Garcher, Catherine, Erke, Maja Gran, Fauser, Sascha, Foster, Paul J., Hammond, Christopher J., Hense, Hans-Werner, Hoyng, Carel B., Khawaja, Anthony P., Korobelnik, Jean-Francois, Piermarocchi, Stefano, Segato, Tatiana, Silva, Rufino, Souied, Eric H., Williams, Katie M., van Duijn, Cornelia M., Delcourt, Cecile, Klaver, Caroline C. W., Acar, Niyazi, Altay, Lebriz, Anastosopoulos, Eleftherios, Azuara-Blanco, Augusto, Berendschot, Tos, Bergen, Arthur, Binquet, Christine, Bird, Alan, Bobak, Martin, Larsen, Morten Bogelund, Boon, Camiel, Bourne, Rupert, Bretillon, Lionel, Broe, Rebecca, Bron, Alain, Buitendijk, Gabrielle, Cachulo, Maria Luz, Capuano, Vittorio, Carriere, Isabelle, Chakravarthy, Usha, Chan, Michelle, Chang, Petrus, Colijn, Johanna, Cree, Angela, Cumberland, Phillippa, Cunha-Vaz, Jose, Daien, Vincent, De Jong, Eiko, Deak, Gabor, Delyfer, Marie-Noelle, den Hollander, Anneke, Dietzel, Martha, Faria, Pedro, Farinha, Claudia, Finger, Robert, Fletcher, Astrid, Foster, Paul, Founti, Panayiota, Gorgels, Theo, Grauslund, Jakob, Grus, Franz, Hammond, Christopher, Heesterbeek, Thomas, Hermann, Manuel, Hoehn, Rene, Hogg, Ruth, Holz, Frank, Hoyng, Carel, Jansonius, Nomdo, Janssen, Sarah, de Jonga, Eiko, Khawaja, Anthony, Klaver, Caroline, Lamparter, Julia, Le Goff, Melanie, Lehtimaki, Terho, Leung, Irene, Lotery, Andrew, Mauschitz, Matthias, Meester, Magda, Merle, Benedicte, Westrup, Verena Meyer Zu, Midena, Edoardo, Miotto, Stefania, Mirshahi, Alireza, Mohan-Said, Sadek, Mueller, Michael, Muldrew, Alyson, Murta, Joaquim, Nickels, Stefan, Nunes, Sandrina, Owen, Christopher, Peto, Tunde, Pfeiffer, Norbert, Prokofyeva, Elena, Rahi, Jugnoo, Raitakari, Olli, Rauscher, Franziska, Ribeiro, Luisa, Rougier, Marie-Benedicte, Rudnicka, Alicja, Sahel, Jose, Salonikiou, Aggeliki, Sanchez, Clarisa, Schick, Tina, Schmitz-Valckenberg, Steffen, Schuster, Alexander, Schweitzer, Cedric, Shehata, Jasmin, Silvestri, Giuliana, Simader, Christian, Souied, Eric, Speckauskas, Martynas, Springelkamp, Henriet, Tapp, Robyn, Topouzis, Fotis, van Leeuwen, Elisa, Verhoeven, Virginie, Vingerling, Hans, Von Hanno, Therese, Williams, Katie, Wolfram, Christian, Yip, Jennifer, Zerbib, Jennyfer, Ajana, Soufiane, Arango-Gonzalez, Blanca, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnes, Marc, Borrell, Anna, Buehren, Sebastian, Calado, Sofia M., Dammeier, Sascha, de Jong, Eiko K., De la Cerda, Berta, Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Miriam, Heesterbeek, Thomas J., Honisch, Sabina, Kilger, Ellen, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Meester-Smoor, Magda, Inserm, Benedicte M. J. Merle, Mones, Jordi, Nogoceke, Everson, Pool, Frances M., Rodriguez, Eduardo, Ueffing, Marius, Bartz-Schmidt, Karl U. Ulrich, van Leeuwen, Elisabeth M., Zumbansen, Markus, Colijn, Johanna M., den Hollander, Anneke, I, Demirkan, Ayse, Cougnard-Gregoire, Audrey, Verzijden, Timo, Kersten, Eveline, Meester-Smoor, Magda A., Merle, Benedicte M. J., Papageorgiou, Grigorios, Ahmad, Shahzad, Mulder, Monique T., Costa, Miguel Angelo, Benlian, Pascale, Bertelsen, Geir, Bron, Alain M., Claes, Birte, Creuzot-Garcher, Catherine, Erke, Maja Gran, Fauser, Sascha, Foster, Paul J., Hammond, Christopher J., Hense, Hans-Werner, Hoyng, Carel B., Khawaja, Anthony P., Korobelnik, Jean-Francois, Piermarocchi, Stefano, Segato, Tatiana, Silva, Rufino, Souied, Eric H., Williams, Katie M., van Duijn, Cornelia M., Delcourt, Cecile, Klaver, Caroline C. W., Acar, Niyazi, Altay, Lebriz, Anastosopoulos, Eleftherios, Azuara-Blanco, Augusto, Berendschot, Tos, Bergen, Arthur, Binquet, Christine, Bird, Alan, Bobak, Martin, Larsen, Morten Bogelund, Boon, Camiel, Bourne, Rupert, Bretillon, Lionel, Broe, Rebecca, Bron, Alain, Buitendijk, Gabrielle, Cachulo, Maria Luz, Capuano, Vittorio, Carriere, Isabelle, Chakravarthy, Usha, Chan, Michelle, Chang, Petrus, Colijn, Johanna, Cree, Angela, Cumberland, Phillippa, Cunha-Vaz, Jose, Daien, Vincent, De Jong, Eiko, Deak, Gabor, Delyfer, Marie-Noelle, den Hollander, Anneke, Dietzel, Martha, Faria, Pedro, Farinha, Claudia, Finger, Robert, Fletcher, Astrid, Foster, Paul, Founti, Panayiota, Gorgels, Theo, Grauslund, Jakob, Grus, Franz, Hammond, Christopher, Heesterbeek, Thomas, Hermann, Manuel, Hoehn, Rene, Hogg, Ruth, Holz, Frank, Hoyng, Carel, Jansonius, Nomdo, Janssen, Sarah, de Jonga, Eiko, Khawaja, Anthony, Klaver, Caroline, Lamparter, Julia, Le Goff, Melanie, Lehtimaki, Terho, Leung, Irene, Lotery, Andrew, Mauschitz, Matthias, Meester, Magda, Merle, Benedicte, Westrup, Verena Meyer Zu, Midena, Edoardo, Miotto, Stefania, Mirshahi, Alireza, Mohan-Said, Sadek, Mueller, Michael, Muldrew, Alyson, Murta, Joaquim, Nickels, Stefan, Nunes, Sandrina, Owen, Christopher, Peto, Tunde, Pfeiffer, Norbert, Prokofyeva, Elena, Rahi, Jugnoo, Raitakari, Olli, Rauscher, Franziska, Ribeiro, Luisa, Rougier, Marie-Benedicte, Rudnicka, Alicja, Sahel, Jose, Salonikiou, Aggeliki, Sanchez, Clarisa, Schick, Tina, Schmitz-Valckenberg, Steffen, Schuster, Alexander, Schweitzer, Cedric, Shehata, Jasmin, Silvestri, Giuliana, Simader, Christian, Souied, Eric, Speckauskas, Martynas, Springelkamp, Henriet, Tapp, Robyn, Topouzis, Fotis, van Leeuwen, Elisa, Verhoeven, Virginie, Vingerling, Hans, Von Hanno, Therese, Williams, Katie, Wolfram, Christian, Yip, Jennifer, Zerbib, Jennyfer, Ajana, Soufiane, Arango-Gonzalez, Blanca, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnes, Marc, Borrell, Anna, Buehren, Sebastian, Calado, Sofia M., Dammeier, Sascha, de Jong, Eiko K., De la Cerda, Berta, Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Miriam, Heesterbeek, Thomas J., Honisch, Sabina, Kilger, Ellen, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Meester-Smoor, Magda, Inserm, Benedicte M. J. Merle, Mones, Jordi, Nogoceke, Everson, Pool, Frances M., Rodriguez, Eduardo, Ueffing, Marius, Bartz-Schmidt, Karl U. Ulrich, van Leeuwen, Elisabeth M., and Zumbansen, Markus

Abstract

Purpose: Genetic and epidemiologic studies have shown that lipid genes and high-density lipoproteins (HDLs) are implicated in age-related macular degeneration (AMD). We studied circulating lipid levels in relationship to AMD in a large European dataset. Design: Pooled analysis of cross-sectional data. Participants: Individuals (N = 30 953) aged 50 years or older participating in the European Eye Epidemiology (E3) consortium and 1530 individuals from the Rotterdam Study with lipid subfraction data. Methods: AMD features were graded on fundus photographs using the Rotterdam classification. Routine blood lipid measurements, genetics, medication, and potential confounders were extracted from the E3 database. In a subgroup of the Rotterdam Study, lipid subfractions were identified by the Nightingale biomarker platform. Random-intercepts mixed-effects models incorporating confounders and study site as a random effect were used to estimate associations. Main Outcome Measures: AMD features and stage; lipid measurements. Results: HDL was associated with an increased risk of AMD (odds ratio [OR], 1.21 per 1-mmol/l increase; 95% confidence interval [CI], 1.14-1.29), whereas triglycerides were associated with a decreased risk (OR, 0.94 per 1-mmol/l increase; 95% CI, 0.91-0.97). Both were associated with drusen size. Higher HDL raised the odds of larger drusen, whereas higher triglycerides decreases the odds. LDL cholesterol reached statistical significance only in the association with early AMD (P = 0.045). Regarding lipid subfractions, the concentration of extra-large HDL particles showed the most prominent association with AMD (OR, 1.24; 95% CI, 1.10-1.40). The cholesteryl ester transfer protein risk variant (rs17231506) for AMD was in line with increased HDL levels (P = 7.7 x 10(-7)), but lipase C risk variants (rs2043085, rs2070895) were associated in an opposite way (P = 1.0 x 10(-6) and P = 1.6 x 10(-4)). Conclusions: Our study suggested that HDL cholesterol is associated

Published
2019

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

Author

Buck Deborah, Powell Christine J, Rahi Jugnoo, Cumberland Phillippa, Tiffin Peter, Taylor Robert, Sloper John, Davis Helen, Dawson Emma, and Clarke Michael P

Subjects
Ophthalmology, RE1-994
Abstract

Abstract 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.

Published
2012
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27. Prevalence of diabetic retinopathy in children and young people living with diabetes: protocol for a systematic review

Author

Ibanez-Bruron, Maria Carolina, Solebo, Ameenat L, Cumberland, Phillippa M, and Rahi, Jugnoo S

Subjects
Diabetic Retinopathy, Adolescent, preventive medicine, Ophthalmology, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Research Design, Protocol, Prevalence, paediatric ophthalmology, Humans, epidemiology, Child, Systematic Reviews as Topic
Abstract

Introduction The frequency of diabetes mellitus in childhood is increasing. Thus, more children and young people are at risk of developing diabetic retinopathy and diabetes related visual impairment. However, there is no consensus on optimal screening strategies for the paediatric population reflecting the lack of clarity about the current burden of disease in this group. We aim to estimate the prevalence of diabetic retinopathy in children and young people living with types 1 or 2 diabetes, and to investigate potential sources of heterogeneity in this figure so as to inform screening strategies for this population. Methods and analysis PubMed and EMBASE will be searched from 1995 to 2016 using the OvidSP platform with no language restriction. Additionally, manual review of the references lists of included articles will be conducted. Two investigators will independently screen titles and abstracts for potential eligibility. Studies which report prevalence of diabetic retinopathy among general populations of children and young people with types 1 or 2 diabetes will be included. Pooled prevalence estimates of diabetic retinopathy reported in studies with sample size greater than 200 participants will be calculated by the random effect model. Forest plots will be used to summarise individual and pooled estimates of the prevalence. Heterogeneity between studies will be assessed using the I2 statistic and explored through meta-regressions and subgroup analyses if the necessary data are available. Ethics and dissemination Ethics approval is not required as this is a review of anonymised published data. We will report the findings of this systematic review in a peer-reviewed journal, and share it with the relevant professionals including health authorities through our Diabetic Eye disease in Childhood Study collaborative network. Clinical trail registration PROSPERO (CRD42017067178).

Published
2017

28. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia:The CREAM Consortium

Author

Fan, Qiao, Guo, Xiaobo, Tideman, J. Willem L, Williams, Katie M., Yazar, Seyhan, Hosseini, S. Mohsen, Howe, Laura D., Pourcain, Beaté St, Evans, David M., Timpson, Nicholas J., McMahon, George, Hysi, Pirro G., Krapohl, Eva, Wang, Ya Xing, Jonas, Jost B., Baird, Paul Nigel, Wang, Jie Jin, Cheng, Ching Yu, Teo, Yik Ying, Wong, Tien Yin, Ding, Xiaohu, Wojciechowski, Robert, Young, Terri L., Pärssinen, Olavi, Oexle, Konrad, Pfeiffer, Norbert, Bailey-Wilson, Joan E., Paterson, Andrew D., Klaver, Caroline C W, Plomin, Robert, Hammond, Christopher J., He, Mingguang, Saw, Seang Mei, Guggenheim, Jeremy A., Meguro, Akira, Wright, Alan F., Hewitt, Alex W., Young, Alvin L., Veluchamy, Amutha Barathi, Metspalu, Andres, Döring, Angela, Khawaja, Anthony P., Klein, Barbara E., St Pourcain, Beate, Fleck, Brian, Hayward, Caroline, Williams, Cathy, Delcourt, Cécile, Pang, Chi Pui, Khor, Chiea Chuen, Gieger, Christian, Simpson, Claire L., Van Duijn, Cornelia M., Mackey, David A., Stambolian, Dwight, Chew, Emily, Tai, E. Shyong, Mihailov, Evelin, Smith, George Davey, Biino, Ginevra, Campbell, Harry, Rudan, Igor, Seppälä, Ilkka, Kaprio, Jaakko, Wilson, James F., Craig, Jamie E., Ried, Janina S., Korobelnik, Jean François, Fondran, Jeremy R., Liao, Jiemin, Zhao, Jing Hua, Xie, Jing, Kemp, John P., Lass, Jonathan H., Rahi, Jugnoo S., Wedenoja, Juho, Mäkelä, Kari Matti, Burdon, Kathryn P., Khaw, Kay Tee, Yamashiro, Kenji, Chen, Li Jia, Xu, Liang, Farrer, Lindsay, Ikram, M. Kamran, Deangelis, Margaret M., Morrison, Margaux, Schache, Maria, Pirastu, Mario, Miyake, Masahiro, Yap, Maurice K H, Fossarello, Maurizio, Kähönen, Mika, Tedja, Milly S., Yoshimura, Nagahisa, Martin, Nicholas G., Wareham, Nick J., Mizuki, Nobuhisa, Raitakari, Olli, Polasek, Ozren, Tam, Pancy O., Foster, Paul J., Mitchell, Paul, Chen, Peng, Cumberland, Phillippa, Gharahkhani, Puya, Höhn, René, Fogarty, Rhys D., Luben, Robert N., Igo, Robert P., Klein, Ronald, Janmahasatian, Sarayut, Yip, Shea Ping, Feng, Sheng, Vaccargiu, Simona, Panda-Jonas, Songhomitra, MacGregor, Stuart, Iyengar, Sudha K., Rantanen, Taina, Lehtimäki, Terho, Meitinger, Thomas, Aung, Tin, Haller, Toomas, Vitart, Veronique, Nangia, Vinay, Verhoeven, Virginie J M, Jhanji, Vishal, Zhao, Wanting, Chen, Wei, Zhou, Xiangtian, Lu, Yi, and Vatavuk, Zoran

Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Published
2016
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29. Measuring the quality of life of visually impaired children: First stage psychometric evaluation of the Novel VQoL_CYP Instrument

Author

Tadic, Valerija, Cooper, Andrew, Cumberland, Phillippa, Lewando-Hundt, Gillian, and Rahi, Jugnoo S.

Abstract

Purpose:\ud To report piloting and initial validation of the VQoL_CYP, a novel age-appropriate vision-related quality of life (VQoL) instrument for self-reporting by children with visual impairment (VI).\ud \ud Methods:\ud Participants were a random patient sample of children with VI aged 10–15 years. 69 patients, drawn from patient databases at Great Ormond Street Hospital and Moorfields Eye Hospital, United Kingdom, participated in piloting of the draft 47-item VQoL instrument, which enabled preliminary item reduction. Subsequent administration of the instrument, alongside functional vision (FV) and generic health-related quality of life (HRQoL) self-report measures, to 101 children with VI comprising a nationally representative sample enabled further item reduction and evaluation of psychometric properties using Rasch analysis. Construct validity was assessed through Pearson correlation coefficients.\ud \ud Results:\ud Item reduction through piloting (8 items removed for skewness and individual item response pattern) and validation (1 item removed for skewness and 3 for misfit in Rasch) produced a 35-item scale, with fit values within acceptable limits, no notable differential item functioning, good measurement precision, ordered response categories and acceptable targeting in Rasch. The VQoL_CYP showed good construct validity, correlating strongly with HRQoL scores, moderately with FV scores but not with acuity.\ud \ud Conclusions:\ud Robust child-appropriate self-report VQoL measures for children with VI are necessary for understanding the broader impacts of living with a visual disability, distinguishing these from limited functioning per se. Future planned use in larger patient samples will allow further psychometric development of the VQoL_CYP as an adjunct to objective outcomes assessment.

Published
2016

30. Study of Optimal Perimetric Testing In Children (OPTIC): developing consensus and setting research priorities for perimetry in the management of children with glaucoma

Author

Patel, Dipesh E., Cumberland, Phillippa M., Walters, Bronwen C., Abbott, Joseph, Brookes, John, Edmunds, Beth, Khaw, Peng Tee, Lloyd, Ian Christopher, Papadopoulos, Maria, Sung, Velota, Cortina-Borja, Mario, and Rahi, Jugnoo S.

Abstract

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. 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.

Published
2021
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31. Frequency and Distribution of Refractive Error in Adult Life Methodology and Findings of the UK Biobank Study

Author

Cumberland, Phillippa M., Bao, Yanchun, Hysi, Pirro G., Foster, Paul J., Hammond, Christopher J., and Rahi, Jugnoo S.

Subjects
Adult, Male, Research Support, Non-U.S. Gov't, Prevalence, Journal Article, Humans, Female, Middle Aged, Refractive Errors, United Kingdom, Aged
Abstract

PURPOSE: To report the methodology and findings of a large scale investigation of burden and distribution of refractive error, from a contemporary and ethnically diverse study of health and disease in adults, in the UK.METHODS: U K Biobank, a unique contemporary resource for the study of health and disease, recruited more than half a million people aged 40-69 years. A subsample of 107,452 subjects undertook an enhanced ophthalmic examination which provided autorefraction data (a measure of refractive error). Refractive error status was categorised using the mean spherical equivalent refraction measure. Information on socio-demographic factors (age, gender, ethnicity, educational qualifications and accommodation tenure) was reported at the time of recruitment by questionnaire and face-to-face interview.RESULTS: Fifty four percent of participants aged 40-69 years had refractive error. Specifically 27% had myopia (4% high myopia), which was more common amongst younger people, those of higher socio-economic status, higher educational attainment, or of White or Chinese ethnicity. The frequency of hypermetropia increased with age (7% at 40-44 years increasing to 46% at 65-69 years), was higher in women and its severity was associated with ethnicity (moderate or high hypermetropia at least 30% less likely in non-White ethnic groups compared to White).CONCLUSIONS: Refractive error is a significant public health issue for the UK and this study provides contemporary data on adults for planning services, health economic modelling and monitoring of secular trends. Further investigation of risk factors is necessary to inform strategies for prevention. There is scope to do this through the planned longitudinal extension of the UK Biobank study.

Published
2015
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32. Study of Optimal Perimetric Testing in Children (OPTIC): Feasibility, Reliability and Repeatability of Perimetry in Children

Author

Patel, Dipesh E., Cumberland, Phillippa M., Walters, Bronwen C., Russell-Eggitt, Isabelle, and Rahi, Jugnoo S.

Subjects
Male, genetic structures, Adolescent, Reproducibility of Results, eye diseases, Child, Preschool, Feasibility Studies, Humans, Visual Field Tests, Female, Prospective Studies, Visual Fields, Child, Research Article
Abstract

Purpose To investigate feasibility, reliability and repeatability of perimetry in children. Methods A prospective, observational study recruiting 154 children aged 5–15 years, without an ophthalmic condition that affects the visual field (controls), identified consecutively between May 2012 and November 2013 from hospital eye clinics. Perimetry was undertaken in a single sitting, with standardised protocols, in a randomised order using the Humphrey static (SITA 24–2 FAST), Goldmann and Octopus kinetic perimeters. Data collected included test duration, subjective experience and test quality (incorporating examiner ratings on comprehension of instructions, fatigue, response to visual and auditory stimuli, concentration and co-operation) to assess feasibility and reliability. Testing was repeated within 6 months to assess repeatability. Results Overall feasibility was very high (Goldmann=96.1%, Octopus=89% and Humphrey=100% completed the tests). Examiner rated reliability was ‘good’ in 125 (81.2%) children for Goldmann, 100 (64.9%) for Octopus and 98 (63.6%) for Humphrey perimetry. Goldmann perimetry was the most reliable method in children under 9 years of age. Reliability improved with increasing age (multinomial logistic regression (Goldmann, Octopus and Humphrey), p

Published
2015

33. Increasing Prevalence of Myopia in Europe and the Impact of Education

Author

Williams, Katie M, Bertelsen, Geir, Cumberland, Phillippa, Wolfram, Christian, Verhoeven, Virginie JM, Anastasopoulos, Eleftherios, Buitendijk, Gabriëlle HS, Cougnard-Grégoire, Audrey, Creuzot-Garcher, Catherine, Erke, Maja Gran, Hogg, Ruth, Höhn, René, Hysi, Pirro, Khawaja, Anthony P, Korobelnik, Jean-François, Ried, Janina, Vingerling, Johannes R, Bron, Alain, Dartigues, Jean-François, Fletcher, Astrid, Hofman, Albert, Kuijpers, Robert WAM, Luben, Robert N, Oxele, Konrad, Topouzis, Fotis, von Hanno, Therese, Mirshahi, Alireza, Foster, Paul J, van Duijn, Cornelia M, Pfeiffer, Norbert, Delcourt, Cécile, Klaver, Caroline CW, Rahi, Jugnoo, Hammond, Christopher J, and European Eye Epidemiology (E(3)) Consortium

Subjects
genetic structures, eye diseases
Abstract

PURPOSE: To investigate whether myopia is becoming more common across Europe and explore whether increasing education levels, an important environmental risk factor for myopia, might explain any temporal trend. DESIGN: Meta-analysis of population-based, cross-sectional studies from the European Eye Epidemiology (E(3)) Consortium. PARTICIPANTS: The E(3) Consortium is a collaborative network of epidemiological studies of common eye diseases in adults across Europe. Refractive data were available for 61 946 participants from 15 population-based studies performed between 1990 and 2013; participants had a range of median ages from 44 to 78 years. METHODS: Noncycloplegic refraction, year of birth, and highest educational level achieved were obtained for all participants. Myopia was defined as a mean spherical equivalent ≤-0.75 diopters. A random-effects meta-analysis of age-specific myopia prevalence was performed, with sequential analyses stratified by year of birth and highest level of educational attainment. MAIN OUTCOME MEASURES: Variation in age-specific myopia prevalence for differing years of birth and educational level. RESULTS: There was a significant cohort effect for increasing myopia prevalence across more recent birth decades; age-standardized myopia prevalence increased from 17.8% (95% confidence interval [CI], 17.6-18.1) to 23.5% (95% CI, 23.2-23.7) in those born between 1910 and 1939 compared with 1940 and 1979 (P = 0.03). Education was significantly associated with myopia; for those completing primary, secondary, and higher education, the age-standardized prevalences were 25.4% (CI, 25.0-25.8), 29.1% (CI, 28.8-29.5), and 36.6% (CI, 36.1-37.2), respectively. Although more recent birth cohorts were more educated, this did not fully explain the cohort effect. Compared with the reference risk of participants born in the 1920s with only primary education, higher education or being born in the 1960s doubled the myopia prevalence ratio-2.43 (CI, 1.26-4.17) and 2.62 (CI, 1.31-5.00), respectively-whereas individuals born in the 1960s and completing higher education had approximately 4 times the reference risk: a prevalence ratio of 3.76 (CI, 2.21-6.57). CONCLUSIONS: Myopia is becoming more common in Europe; although education levels have increased and are associated with myopia, higher education seems to be an additive rather than explanatory factor. Increasing levels of myopia carry significant clinical and economic implications, with more people at risk of the sight-threatening complications associated with high myopia.

Published
2015

34. Prevalence of refractive error in Europe: the European Eye Epidemiology (E3) Consortium

Author

Williams, Katie M., Verhoeven, Virginie J.M., Cumberland, Phillippa, Bertelsen, Geir, Wolfram, Christian, Buitendijk, Gabriëlle H.S., Hofman, Albert, Van Duijn, Cornelia, Vingerling, Johannes R., Kuijpers, Robert W.A.M., Höhn, René, Mirshahi, Alireza, Khawaja, Anthony P., Luben, Robert N., Gran Erke, Maja, von Hanno, Therese, Mahroo, Omar, Hogg, Ruth, Gieger, Christian, Cougnard-Grégoire, Audrey, Anastasopoulos, Eleftherios, Bron, Alain, Dartigues, Jean-François, Korobelnik, Jean-François, Creuzot Garcher, Catherine, Topouzis, Fotis, Delcourt, Cécile, Rahi, Jugnoo, Meitinger, Thomas, Fletcher, Astrid, Foster, Paul J., Pfeiffer, Norbert, Klaver, Caroline C. W., Hammond, Christopher J., King‘s College London, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Institute of Child Health, University Hospital of North Norway [Tromsø] (UNN), VU University Medical Center [Amsterdam], Institute of Public Health, Cambridge Institute of Public Health, University of Cambridge [UK] (CAM), UNN, University Hospital of North Norway, Tromsoe, Norvège, Université Paris Diderot - Paris 7 (UPD7), Nordland Hospital, University of Norway, Queen's University [Belfast] (QUB), Helmholtz-Zentrum München (HZM), Université de Bordeaux (UB), Aristotle University of Thessaloniki, Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), Centre National de la Recherche Scientifique (CNRS)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université de Bordeaux - INSERM, France, Institute of Child London (UCL), Moorfields Eye Hospital, London School of Hygiene and Tropical Medicine (LSHTM), University Medical Center, Mainz, Allemagne, Surgical clinical sciences, University Hospital of North Norway, Institute of Public Health - University of Cambridge, Royaume Uni, Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS), Erasmus Medical Center Rotterdam, University Medical Center, Queen’s University Belfast, Helmholtz-Zentrum München ( HZM ), Université de Bordeaux ( UB ), Centre des Sciences du Goût et de l'Alimentation [Dijon] ( CSGA ), Institut National de la Recherche Agronomique ( INRA ) -Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Institute of Child London ( UCL ), London School of Hygiene and Tropical Medicine ( LSHTM ), Ophthalmology, and Epidemiology

Subjects
Adult, Male, Urban Population, Adolescent, genetic structures, Epidemiology, [SDV]Life Sciences [q-bio], European Continental Ancestry Group, prevalence, Urban Population/statistics & numerical data, consortium, White People, Refractive Errors/diagnosis, Europe/epidemiology, Age Distribution, Ethnicity, Myopia, Prevalence, Odds Ratio, Humans, risk factors, VDP::Medisinske Fag: 700, refractive error, myopia, Sex Distribution, Aged, Medicine(all), [ SDV ] Life Sciences [q-bio], Ophthalmic Epidemiology, Refractive error, Middle Aged, Refractive Errors, eye diseases, Europe, VDP::Medical disciplines: 700, Cross-Sectional Studies, Female, epidemiology, Consortium, Refractive Error, Ethnic Groups/statistics & numerical data
Abstract

To estimate the prevalence of refractive error in adults across Europe. Refractive data (mean spherical equivalent) collected between 1990 and 2013 from fifteen population-based cohort and cross-sectional studies of the European Eye Epidemiology (E3) Consortium were combined in a random effects meta-analysis stratified by 5-year age intervals and gender. Participants were excluded if they were identified as having had cataract surgery, retinal detachment, refractive surgery or other factors that might influence refraction. Estimates of refractive error prevalence were obtained including the following classifications: myopia ≤−0.75 diopters (D), high myopia ≤−6D, hyperopia ≥1D and astigmatism ≥1D. Meta-analysis of refractive error was performed for 61,946 individuals from fifteen studies with median age ranging from 44 to 81 and minimal ethnic variation (98 % European ancestry). The age-standardised prevalences (using the 2010 European Standard Population, limited to those ≥25 and

Published
2015
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35. Do visually impaired children and their parents agree on the child's vision-related quality of life and functional vision?

Author

Tadić, Valerija, Cumberland, Phillippa M., Lewando-Hundt, Gillian, Rahi, Jugnoo S., Tadić, Valerija, Cumberland, Phillippa M., Lewando-Hundt, Gillian, and Rahi, Jugnoo S.

Abstract

Aims: To investigate agreement between children with visual impairment (VI) and their parents on their ratings of the child's vision-related quality of life (VQoL) and functional vision (FV) using two novel self-report patient-reported outcome measures developed for this population. Methods: 99 children aged 10–15 years (mean age=12.2, SD=1.9) with VI (best corrected acuity (logarithm of the minimum angle of resolution) 0.50 or worse in better eye) and their parents participated in a national postal survey, completing the child and proxy versions of our novel instruments assessing VQoL and FV of children with VI—the vision-related quality of life instrument for children and young people (VQoL_CYP) and the functional vision questionnaire for children and young people (FVQ_CYP), respectively. Parent-child agreement was investigated using the Bland-Altman (BA) method. Variation across key sociodemographic and clinical characteristics was examined using the Intraclass Correlation Coefficient. Results: Average parental ratings of their child's VQoL and FV were significantly lower than the children's own ratings, but the range of disagreement was wide, with parents both overestimating and underestimating their child's VQoL (mean score difference=5.7, BA limits of agreement (LOA): lower −22.10 (CI 95% −24.61 to 19.59) and upper 33.50 (CI 95% 30.99 to 36.01)), but more consistently underestimating the child's FV (mean score difference=−11.8, BA LOA: lower −39.60 (CI 95% −42.12 to 37.08) and upper 16 (CI 95% 13.48 to 18.52)). There was variation in agreement by some child characteristics, including vision level, time of onset and course of VI progression. Conclusions: Visually impaired children and their parents perceive the broader impact of living with VI very differently. There is value in routine capture of information independently from children and their parents for comprehensively gauging the impact of childhood VI and tailoring appropriate interventions.

Published
2016

36. Ophthalmic epidemiology in Europe: the European Eye Epidemiology (E3) consortium

Author

Delcourt, Cecile, Korobelnik, Jean-Francois, Buitendijk, Gabrielle H. S., Foster, Paul J., Hammond, Christopher J., Piermarocchi, Stefano, Peto, Tunde, Jansonius, Nomdo, Mirshahi, Alireza, Hogg, Ruth E., Bretillon, Lionel, Topouzis, Fotis, Deak, Gabor, Grauslund, Jakob, Broe, Rebecca, Souied, Eric H., Creuzot-Garcher, Catherine, Sahel, Jose, Daien, Vincent, Lehtimaki, Terho, Hense, Hans-Werner, Prokofyeva, Elena, Oexle, Konrad, Rahi, Jugnoo S., Cumberland, Phillippa M., Schmitz-Valckenberg, Steffen, Fauser, Sascha, Bertelsen, Geir, Hoyng, Carel, Bergen, Arthur, Silva, Rufino, Wolf, Sebastian, Lotery, Andrew, Chakravarthy, Usha, Fletcher, Astrid, Klaver, Caroline C. W., Delcourt, Cecile, Korobelnik, Jean-Francois, Buitendijk, Gabrielle H. S., Foster, Paul J., Hammond, Christopher J., Piermarocchi, Stefano, Peto, Tunde, Jansonius, Nomdo, Mirshahi, Alireza, Hogg, Ruth E., Bretillon, Lionel, Topouzis, Fotis, Deak, Gabor, Grauslund, Jakob, Broe, Rebecca, Souied, Eric H., Creuzot-Garcher, Catherine, Sahel, Jose, Daien, Vincent, Lehtimaki, Terho, Hense, Hans-Werner, Prokofyeva, Elena, Oexle, Konrad, Rahi, Jugnoo S., Cumberland, Phillippa M., Schmitz-Valckenberg, Steffen, Fauser, Sascha, Bertelsen, Geir, Hoyng, Carel, Bergen, Arthur, Silva, Rufino, Wolf, Sebastian, Lotery, Andrew, Chakravarthy, Usha, Fletcher, Astrid, and Klaver, Caroline C. W.

Abstract

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.

Published
2016

37. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error

Author

University of Helsinki, Clinicum, Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Hoehn, Rene, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Makela, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beat, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polasek, Ozren, Campbell, Harry, Bencic, Goran, Wright, Alan F., Wedenoja, Juho, Zeller, Tanja, Schillert, Arne, Mirshahi, Alireza, Lackner, Karl, Yip, Shea Ping, Yap, Maurice K. H., Ried, Janina S., Gieger, Christian, Murgia, Federico, Wilson, James F., Fleck, Brian, Yazar, Seyhan, Vingerling, Johannes R., Hofman, Albert, Uitterlinden, Andre, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Oostra, Ben A., Zhou, Xin, Teo, Yik-Ying, Tai, E. Shyong, Vithana, Eranga, Barathi, Veluchamy, Zheng, Yingfeng, Siantar, Rosalynn Grace, Neelam, Kumari, Shin, Youchan, Lam, Janice, Yonova-Doing, Ekaterina, Venturini, Cristina, Hosseini, S. Mohsen, Wong, Hoi-Suen, Lehtimaki, Terho, Kahonen, Mika, Raitakari, Olli, Timpson, Nicholas J., Evans, David M., Khor, Chiea-Chuen, Aung, Tin, Young, Terri L., Mitchell, Paul, Klein, Barbara, van Duijn, Cornelia M., Meitinger, Thomas, Jonas, Jost B., Baird, Paul N., Mackey, David A., Wong, Tien Yin, Saw, Seang-Mei, Parssinen, Olavi, Stambolian, Dwight, Hammond, Christopher J., Klaver, Caroline C. W., Williams, Cathy, Paterson, Andrew D., Bailey-Wilson, Joan E., Guggenheim, Jeremy A., CREAM Consortium, University of Helsinki, Clinicum, Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Hoehn, Rene, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Makela, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beat, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polasek, Ozren, Campbell, Harry, Bencic, Goran, Wright, Alan F., Wedenoja, Juho, Zeller, Tanja, Schillert, Arne, Mirshahi, Alireza, Lackner, Karl, Yip, Shea Ping, Yap, Maurice K. H., Ried, Janina S., Gieger, Christian, Murgia, Federico, Wilson, James F., Fleck, Brian, Yazar, Seyhan, Vingerling, Johannes R., Hofman, Albert, Uitterlinden, Andre, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Oostra, Ben A., Zhou, Xin, Teo, Yik-Ying, Tai, E. Shyong, Vithana, Eranga, Barathi, Veluchamy, Zheng, Yingfeng, Siantar, Rosalynn Grace, Neelam, Kumari, Shin, Youchan, Lam, Janice, Yonova-Doing, Ekaterina, Venturini, Cristina, Hosseini, S. Mohsen, Wong, Hoi-Suen, Lehtimaki, Terho, Kahonen, Mika, Raitakari, Olli, Timpson, Nicholas J., Evans, David M., Khor, Chiea-Chuen, Aung, Tin, Young, Terri L., Mitchell, Paul, Klein, Barbara, van Duijn, Cornelia M., Meitinger, Thomas, Jonas, Jost B., Baird, Paul N., Mackey, David A., Wong, Tien Yin, Saw, Seang-Mei, Parssinen, Olavi, Stambolian, Dwight, Hammond, Christopher J., Klaver, Caroline C. W., Williams, Cathy, Paterson, Andrew D., Bailey-Wilson, Joan E., Guggenheim, Jeremy A., and CREAM Consortium

Published
2015

38. Development of the functional vision questionnaire for children and young people with visual impairment: The FVQ-CYP

Author

Tadić, Valerija, Cooper, Andrew, Cumberland, Phillippa, Lewando-Hundt, Gillian, Rahi, Jugnoo S., and Vision-related Quality of Life Group

Subjects
RE
Abstract

Objective:\ud To develop a novel age-appropriate measure of functional vision (FV) for self-reporting by visually impaired (VI) children and young people.\ud \ud Design:\ud Questionnaire development.\ud \ud Participants:\ud A representative patient sample of VI children and young people aged 10 to 15 years, visual acuity of the logarithm of the minimum angle of resolution (logMAR) worse than 0.48, and a school-based (nonrandom) expert group sample of VI students aged 12 to 17 years.\ud \ud Methods:\ud A total of 32 qualitative semistructured interviews supplemented by narrative feedback from 15 eligible VI children and young people were used to generate draft instrument items. Seventeen VI students were consulted individually on item relevance and comprehensibility, instrument instructions, format, and administration methods. The resulting draft instrument was piloted with 101 VI children and young people comprising a nationally representative sample, drawn from 21 hospitals in the United Kingdom. Initial item reduction was informed by presence of missing data and individual item response pattern. Exploratory factor analysis (FA) and parallel analysis (PA), and Rasch analysis (RA) were applied to test the instrument's psychometric properties.\ud \ud Main Outcome Measures:\ud Psychometric indices and validity assessment of the Functional Vision Questionnaire for Children and Young People (FVQ_CYP).\ud \ud Results:\ud A total of 712 qualitative statements became a 56-item draft scale, capturing the level of difficulty in performing vision-dependent activities. After piloting, items were removed iteratively as follows: 11 for high percentage of missing data, 4 for skewness, and 1 for inadequate item infit and outfit values in RA, 3 having shown differential item functioning across age groups and 1 across gender in RA. The remaining 36 items showed item fit values within acceptable limits, good measurement precision and targeting, and ordered response categories. The reduced scale has a clear unidimensional structure, with all items having a high factor loading on the single factor in FA and PA. The summary scores correlated significantly with visual acuity.\ud \ud Conclusions:\ud We have developed a novel, psychometrically robust self-report questionnaire for children and young people—the FVQ_CYP—that captures the functional impact of visual disability from their perspective. The 36-item, 4-point unidimensional scale has potential as a complementary adjunct to objective clinical assessments in routine pediatric ophthalmology practice and in research.\ud \ud Financial Disclosure(s):\ud The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Published
2013

40. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Author

Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, Hammond, Christopher J, Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, and Hammond, Christopher J

Abstract

Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.

Published
2013

41. Identification of a Candidate Gene for Astigmatism

Author

Lopes, Margarida C., primary, Hysi, Pirro G., additional, Verhoeven, Virginie J. M., additional, Macgregor, Stuart, additional, Hewitt, Alex W., additional, Montgomery, Grant W., additional, Cumberland, Phillippa, additional, Vingerling, Johannes R., additional, Young, Terri L., additional, van Duijn, Cornelia M., additional, Oostra, Ben, additional, Uitterlinden, Andre G., additional, Rahi, Jugnoo S., additional, Mackey, David A., additional, Klaver, Caroline C. W., additional, Andrew, Toby, additional, and Hammond, Christopher J., additional

Published
2013
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43. Active surveillance of visual impairment due to adverse drug reactions: findings from a national study in the United Kingdom.

Author

Cumberland, Phillippa M., Russell ‐ Eggitt, Isabelle, and Rahi, Jugnoo S.

Subjects
*VISION disorders, *DRUG side effects, *VISUAL acuity, *POLYPHARMACY, *VISION disorders in old age, *DISEASE risk factors
Abstract

As visual impairment ( VI) due to adverse drug reactions ( ADR) is rare in adults and children, there is an incomplete evidence base to inform guidance for screening and for counseling patients on the potential risks of medications. We report on suspected drugs and the eye conditions found in a national study of incidence of diagnosis of visual impairment due to suspected ADR. Case ascertainment was via the British Ophthalmological Surveillance Unit ( BOSU), between March 2010 and February 2012, with follow-up after 6 months. Case definition: any child or adult with bilateral or unilateral visual impairment due to a suspected ADR, using distance acuity worse than Snellen 6/18 (log MAR 0.48) in the better eye (bilateral) or affected eye (unilateral). Anonymized patient information on potential cases was provided by managing ophthalmologists, comprising visual status before and after suspected ADR, ophthalmic condition attributable to the ADR, preexisting eye disease and prescribed medications at the time of the ADR. Permanency and causality of the visual impairment were confirmed by the managing clinician, after 6 months, using the WHO Uppsala Monitoring Committee criteria. Over 2 years, 36 eligible cases were reported of whom 23 had permanent VI. While most cases were due to drugs known to have adverse side-effects, some were unanticipated sporadic cases. Visual impairment due to ADRs is rare. However, with for example, increasing polypharmacy in the elderly, monitoring of ocular ADRs, although challenging, is necessary. [ABSTRACT FROM AUTHOR]

Published
2015
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44. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Author

Wojciechowski, Robert, Verhoeven, Virginie, Ikram, Mohammad, Höhn, René, Hewitt, Alex, Cheng, Ching-Yu, St Pourcain, Beaté, McMahon, George, Kemp, John, Rahi, Jugnoo, Cumberland, Phillippa, Wedenoja, Juho, Schillert, Arne, Mirshahi, Alireza, Yip, Shea, Hofman, Albert, Uitterlinden, André, Rivadeneira, Fernando, Teo, Yik-Ying, and Tai, E.

Subjects
ASTIGMATISM, REFRACTIVE errors, NEUREXINS, SINGLE nucleotide polymorphisms, CORNEAL dystrophies
Abstract

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. [ABSTRACT FROM AUTHOR]

Published
2015
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45. Study of Optimal Perimetric Testing In Children (OPTIC) Normative Visual Field Values in Children

Author

Patel, Dipesh E., Cumberland, Phillippa M., Walters, Bronwen C., Russell-Eggitt, Isabelle, Cortina-Borja, Mario, and Rahi, Jugnoo S.

Abstract

PurposeWe sought to define normative visual field (VF) values for children using common clinical test protocols for kinetic and static perimetry.DesignProspective, observational study.SubjectsWe 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.MethodsChildren 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 MeasuresSummary measures and graphical plots describing normative VF data for 3 common perimetric tests.ResultsVisual 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.ConclusionsVisual 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.

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46. Measuring the Quality of Life of Visually Impaired Children: First Stage Psychometric Evaluation of the Novel VQoL&#95;CYP Instrument.

Author

Tadić V, Cooper A, Cumberland P, Lewando-Hundt G, and Rahi JS

Subjects
Adolescent, Child, Female, Humans, London, Male, Pilot Projects, Psychometrics statistics & numerical data, Self Report, Visually Impaired Persons psychology, Visually Impaired Persons statistics & numerical data, Psychometrics methods, Quality of Life, Vision Disorders psychology
Abstract

Purpose: To report piloting and initial validation of the VQoL&#95;CYP, a novel age-appropriate vision-related quality of life (VQoL) instrument for self-reporting by children with visual impairment (VI)., Methods: Participants were a random patient sample of children with VI aged 10-15 years. 69 patients, drawn from patient databases at Great Ormond Street Hospital and Moorfields Eye Hospital, United Kingdom, participated in piloting of the draft 47-item VQoL instrument, which enabled preliminary item reduction. Subsequent administration of the instrument, alongside functional vision (FV) and generic health-related quality of life (HRQoL) self-report measures, to 101 children with VI comprising a nationally representative sample enabled further item reduction and evaluation of psychometric properties using Rasch analysis. Construct validity was assessed through Pearson correlation coefficients., Results: Item reduction through piloting (8 items removed for skewness and individual item response pattern) and validation (1 item removed for skewness and 3 for misfit in Rasch) produced a 35-item scale, with fit values within acceptable limits, no notable differential item functioning, good measurement precision, ordered response categories and acceptable targeting in Rasch. The VQoL&#95;CYP showed good construct validity, correlating strongly with HRQoL scores, moderately with FV scores but not with acuity., Conclusions: Robust child-appropriate self-report VQoL measures for children with VI are necessary for understanding the broader impacts of living with a visual disability, distinguishing these from limited functioning per se. Future planned use in larger patient samples will allow further psychometric development of the VQoL&#95;CYP as an adjunct to objective outcomes assessment.

Published
2016
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