Publications | UK Biobank Eye and Vision Consortium

Below is a list of some of our publications, click the titles to read more:

Consortium members publications

1. Crowdsourcing as a Novel Technique for Retinal Fundus Photography Classification: Analysis of Images in the EPIC Norfolk Cohort on Behalf of the UKBiobank Eye and Vision Consortium. Mitry D, Peto T, Hayat S, Morgan JE, Khaw KT, Foster PJ. PLoS One 2013 Aug 21;8(8):e71154.

2. Understanding visual impairment in UK Biobank. Cumberland PM, Foster PJ and Rahi JS. Ophthalmic & Physiological Optics 35 (2015) 106.

3. Suitability of UK Biobank Retinal Images for Automatic Analysis of Morphometric Properties of the Vasculature. Thomas J MacGillivray TJ, Cameron JR, Zhang Q, El-Medany A, Mulholland C, Sheng Z, Dhillon B, Doubal FN, Foster PJ, Trucco E, Sudlow C, UK Biobank Eye and Vision Consortium. 2015. PLoS ONE 10(5): e0127914. doi:10.1371/journal.pone.0127914

4. Measures of socioeconomic status and self-reported glaucoma in the UK Biobank cohort. Shweikh Y, Ko F, Chan MPY, Patel PJ, Muthy Z, Khaw PT, Yip J, Strouthidis N and Foster PJ on behalf of the UK Biobank Eye and Vision Consortium. Eye advance online publication 28 Aug 2015 doi: 10.1038/eye.2015.157

5. Frequency and Distribution of Refractive Error in Adult Life: Methodology and Findings of the UK Biobank Study. Cumberland PM, Bao Y, Hysi PG, Foster PJ, Hammond CJ, Rahi JS, UK Biobank Eyes & Vision Consortium. Oct 2015. PLoS ONE. DOI:10.1371/journal.pone.0139780

6. Laser refractive surgery in the UK Biobank study: Frequency, distribution by sociodemographic factors, and general health, happiness, and social participation outcomes. Cumberland PM, Chianca A, Rahi JS, for the UK Biobank Eyes & Vision Consortium. Dec 2015. J Cataract Refract Surg 41:2466–2475

7. Associations with Intraocular Pressure in a Large Cohort. Results from the UK Biobank. Chan MPY, Grossi CM, Khawaja AP, Yip JLY, Khaw KT, Patel PJ, Khaw PT, Morgan JE, Vernon SA, Foster PJ on behalf of the UK Biobank Eye and Vision Consortium. Jan 2016. Ophthalmology, DOI: http://dx.doi.org/10.1016/j.ophtha.2015.11.031

8. Role of Educational Exposure in the Association Between Myopia and Birth Order. Guggenheim JA, Williams C, on behalf of the UK Biobank Eye and Vision Consortium. Oct 2015. JAMA Ophthalmology doi:10.1001/jamaophthalmol.2015.3556

9. Spectral-Domain Optical Coherence Tomography Imaging in 67 321 Adults. Patel PJ, Foster PJ, Grossi CM, Keane PA, Ko F, Lotery A, Peto T, Reisman CA, Strouthidis NG, Yang Q, on behalf of the UK Biobank Eye and Vision Consortium. Dec 2015. Ophthalmology. doi:10.1016/j.ophtha.2015.11.009

10. Childhood febrile illness and the risk of myopia in UK Biobank participants. Guggenheim JA, Williams C, on behalf of the UK Biobank Eye and Vision Consortium. Feb 2016. Eye. doi:10.1038/eye.2016.7

11. Automated retinal image quality assessment on the UK Biobank dataset for epidemiological studies. Welikala RA, Fraz MM, Foster PJ, Whincup PH, Rudnicka AR, Owen CG, Strachan DP, Barman SA, on behalf of the UK Biobank Eye and Vision Consortium. Jan 2016. Computers in Biology and Medicine. doi:10.1016/j.compbiomed.2016.01.027

12. Accuracy and Utility of Self-report of Refractive Error. Cumberland PM, Chianca A, Rahi JS, on behalf of the UK Biobank Eye and Vision Consortium. May 2016. JAMA Ophthalmology. doi:10.1001/jamaophthalmol.2016.1275

13. Visual Function, Social Position, and Health and Life Chances - The UK Biobank Study.Cumberland PM & Rahi JS, on behalf of the UK Biobank Eye and Vision Consortium. July 2016. JAMA Ophthalmology. doi:10.1001/jamaophthalmol.2016.1778.

14. Associations with Retinal Pigment Epithelium Thickness Measures in a Large Cohort: Results from the UK Biobank. Ko F, Foster PJ, Strouthidis NG, Shweikh Y, Yang Q, Reisman CA, Muthy ZA, Chakravarthy C, Lotery AJ, Keane PA, Tufail A, Grossi CM, Patel PJ, on behalf of the UK Biobank Eye & Vision Consortium. Oct 2016. Ophthalmology. doi:10.1016/j.ophtha.2016.07.033

15. The Accuracy and Reliability of Crowdsource Annotations of Digital Retinal Images. Mitry D, Zutis K, Dhillon B, Peto T, Hayat S, Khaw KT, Morgan JE, Moncur W, Trucco E, Foster PJ, on behalf of the UK Biobank Eye & Vision Consortium. Sep 2016. Translational Vision Science & Technology. DOI: 10.1167/tvst.5.5.6

16. Optical Coherence Tomography in the UK Biobank Study – Rapid Automated Analysis of Retinal Thickness for Large Population-Based Studies. Keane PA, Grossi CM, Foster PJ, Yang Q, Reisman CA, Chan K, Peto T, Thomas D, Patel PJ, on behalf of the UK Biobank Eye & Vision Consortium. Oct 2016. PLoS ONE. DOI:10.1371/journal.pone.0164095

17. Data from UK Biobank on febrile illness. Stratton, IM. Sept 2016. Eye 30(12), pp.1650-1651.

18. Automated arteriole and venule classification using deep learning for retinal images from the UK Biobank cohort. Welikala RA, Foster PJ, Whincup PH, Rudnicka AR, Owen CG, Strachan DP, Barman SA, on behalf of the UK Biobank Eye and Vision Consortium. Sept 2017. Computers in Biology and Medicine 90 pp. 23-32. DOI: http://dx.doi.org/10.1016/j.compbiomed.2017.09.005.

19. Vitreoretinal interface abnormalities in middle-aged adults with visual impairment in the UK Biobank study: prevalence, impact on visual acuity and associations. McKibbin M, Farragher T, Darren S on behalf of the UK Biobank Eye and Vision Consortium. April 2017. BMJ Open Ophth 2017;1: e000057. doi:10.1136/bmjophth-2016-000057.

20. Is a large eye size a risk factor for myopia? A Mendelian randomization study. Plotnikov D, Guggenheim J, UK Biobank Eye and Vision Consortium. December, 2017. BioRxiv doi://https://dx.doi.org/10.1101/240283

21. Number of incident cases of the main eye diseases of ageing in the UK Biobank cohort, projected over a 25-year period from time of recruitment. Desai P, Minassian DC, Reidy A, Allen N & Sudlow C. Br J Ophthalmol. 2018 doi:10.1136/bjophthalmol-2017-311289

22. Association of Retinal Nerve Fiber Layer Thinning With Current and Future Cognitive Decline: A Study Using Optical Coherence Tomography. Ko F, Muthy ZA, Gallacher J, et al, UK Biobank Eye and Vision Consortium. JAMA Neurol. 2018 doi:10.1001/jamaneurol.2018.1578

23. Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. Khawaja AP, Jessica N, Bailey C, et al, UK Biobank Eye and Vision Consortium. Nature Genetics 2018 https://doi.org/10.1038/s41588-018-0126-8.

24. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Tedja MS, Wojciechowski R, Hysi PG, et al, UK Biobank Eye and Vision Consortium. Nature Genetics 2018 https://doi.org/10.1038/s41588-018-0127-7.

25. Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci. Shah RL, Guggenheim JA, UK Biobank Eye and Vision Consortium. Human genetics. 2018 https://doi.org/10.1007/s00439-018-1942-8.

26. Insight into the genetic aetiology of retinal detachment by combining small clinical and large population-based datasets. Boutin TS, Charteris DG, et al, UK Biobank Eye and Vision Consortium. March, 2019. BioRxiv doi://https://doi.org/10.1101/581165

27. Cohort profile: design and methods in the eye and vision consortium of UK Biobank. Chua SYL, Thomas D, Allen N, et al, UK Biobank Eye and Vision Consortium. BMJ Open 2019. http:// dx. doi.org/10.1136/ bmjopen- 2018-025077

28. A commonly occurring genetic variant within the NPLOC4-TSPAN10-PDE6G gene cluster is associated with the risk of strabismus. Plotnikov D, Shah RL, Rodrigues JN, et al, UK Biobank Eye and Vision Consortium. May, 2019. Human genetics doi://https ://doi.org/10.1007/s0043 9-019-02022 -8

29. Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development. Pozarickij A, Williams C, Hysi PG, et al, UK Biobank Eye and Vision Consortium. May, 2019. Communications biology doi://https://doi.org/10.1038/s42003-019-0387-5

30. Frequency and distribution of corneal astigmatism and keratometry features in adult life: Methodology and findings of the UK Biobank study. Pontikos N, Chua S, Foster P.J, et al, UK Biobank Eye and Vision Consortium. Plos One 2019 https://doi.org/10.1371/journal.pone.0218144.

31. Associations with Corneal Hysteresis in a Population Cohort: Results from 96 010 UK Biobank Participants. Zhang B, Shweikh Y, Khawaja AP, et al, UK Biobank Eye and Vision Consortium. Ophthalmology July 2019 https://doi.org/10.1016/j.ophtha.2019.06.029.

32. Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort: The UK Biobank. Khawaja AP, Chua S, Hysi PG, et al, UK Biobank Eye and Vision Consortium. Ophthalmology Aug 2019 https://doi.org/10.1016/j.ophtha.2019.08.015

33. Association Between Polygenic Risk Score and Risk of Myopia. Mojarrad N.G, Plotnikov D, Williams C, et al, UK Biobank Eye and Vision Consortium. JAMA Ophthalmology Oct 2019 https ://doi:10.1001/jamaophthalmol.2019.4421

34. Refractive Error Has Minimal Influence on the Risk of Age-Related Macular Degeneration: A Mendelian Randomization Study. Wood A, Guggenheim JA. Am J Ophthalmol. 2019 Oct;206:87-93 https://doi.org/10.1016/j.ajo.2019.03.018

35. Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. Bonnemaijer PWM, Leeuwen EMV, Iglesias AI JA, et al, UK Biobank Eye and Vision Consortium. Commun Biol. 2019 Nov 27;2:435 doi: 10.1038/s42003-019-0634-9.

36. The Relationship Between Ambient Atmospheric Fine Particulate Matter (PM2.5) and Glaucoma in a Large Community Cohort. Chua S.Y.L, Khawaja AP, Morgan J, et al, UK Biobank Eye and Vision Consortium. Investigative Ophthalmology & Visual Science Nov 2019 https ://https://doi.org/10.1167/iovs.19-28346

37. Insights into the genetic basis of retinal detachment. Boutin T.S, Charteris D.G, Chandra A, et al, UK Biobank Eye and Vision Consortium. Human Molecular Genetics Dec 2019 https ://https://doi.org/10.1093/hmg/ddz294

38. A Genome-Wide Association Study for Susceptibility to Visual Experience-Induced Myopia. Huang Y, Kee CS, Hocking P.M, et al, UK Biobank Eye and Vision Consortium. Investigative Ophthalmology & Visual Science Feb 2019 https://doi.org/10.1167/iovs.18-25597

39. Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. Bonnemaijer P.W.M, van Leeuwen E.M, Iglesias A.I, et al, UK Biobank Eye and Vision Consortium. Communications Biology Nov 2019 https://doi.org/10.1038/s42003-019-0634-9

40. Associations with photoreceptor thickness measures in the UK Biobank. Chua SYL, Dhillon B, Aslam T, et al, UK Biobank Eye and Vision Consortium. Scientific Reports Dec 2019 https://doi: 10.1038/s41598-019-55484-1

41. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Craig J.E, Han X, Qassim A, et al, UK Biobank Eye and Vision Consortium. Nature Genetics Jan 2020 https://doi: 10.1038/s41588-019-0556-y

42. Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error. Qiao F, Pozarickij A, Tan N.Y.Q, et al, UK Biobank Eye and Vision Consortium. Communications Biology March 2020 https://doi.org/10.1038/s42003-020-0802-y

43. Non‑additive (dominance) effects of genetic variants associated with refractive error and myopia. Pozarickij A, Williams C, Guggenheim J.A, et al, UK Biobank Eye and Vision Consortium. Molecular Genetics and Genomics March 2020 https://doi.org/10.1007/s00438-020-01666-w

44. Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia. Hysi P.G, Choquet H, Khawaja A.P, et al, UK Biobank Eye and Vision Consortium. Nature Genetics March 2020 https://doi.org/10.1038/s41588-020-0599-0

45. Ambient Air Pollution Associations with Retinal Morphology in the UK Biobank. Chua SYL, Khawaja AP, Dick AD, et al, UK Biobank Eye and Vision Consortium. Investigative Ophthalmology & Visual Science 2020;61(5):32- https://doi.org/10.1167/iovs.61.5.32

46. Effect of Education on Myopia: Evidence from the United Kingdom ROSLA 1972 Reform. Plotnikov D, Williams C, Atan D, et al, UK Biobank Eye and Vision Consortium. IOVS September 2020 https://doi.org/10.1167/iovs.61.11.7

47. The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects. Simcoe MJ, Khawaja AP, Mahroo OA, et al, UK Biobank Eye and Vision Consortium. Invest Ophthalmol Vis Sci 2020;61(11):20 https://doi.org/10.1167/iovs.61.11.20

48. Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases. Simcoe MJ, Khawaja AP, Hysi PG, et al, UK Biobank Eye and Vision Consortium. Hum Mol Genet 2020;29(18):3154-64 https://DOI:10.1093/hmg/ddaa155

49. Retinal asymmetry in multiple sclerosis. Petzold A, Chua SYL, Khawaja AP, et al, UK Biobank Eye and Vision Consortium. Brain Nov 2020 https://doi:10.1093/brain/awaa361

50. Retinal Vascular Tortuosity and Diameter Associations with Adiposity and Components of Body Composition. Tapp RJ, Owen CG, Barman SA, et al, UK Biobank Eye and Vision Consortium. Obesity 2020;28(9):1750-60 https://doi.org/10.1002/oby.22885

51. Relationships between retinal layer thickness and brain volumes in the UK Biobank cohort. Chua SY, Lascaratos G, Atan D, et al, UK Biobank Eye and Vision Consortium. European Journal of Neurology Dec 2020 https://doi.org/10.1111/ene.14706

52. Association of ambient air pollution with age-related macular degeneration and retinal thickness in UK Biobank. Chua SYL, Warwick A, Peto T, et al, UK Biobank Eye and Vision Consortium. British Journal of Ophthalmology Jan 2021 http://dx.doi.org/10.1136/bjophthalmol-2020-316218

53. Association Between Medication-Taking and Refractive Error in a Large General Population-Based Cohort. Patasova K, Khawaja AP, Tamraz B, et al, UK Biobank Eye and Vision Consortium. Investigative Ophthalmology & Visual Science 2021;62(2):15- https://doi.org/10.1167/iovs.62.2.15

54. Investigation of associations between retinal microvascular parameters and albuminuria in UK Biobank: a cross-sectional case-control study. Paterson EN, Cardwell C, MacGillivray TJ, et al, UK Biobank Eye and Vision Consortium. BMC Nephrol 2021;22(1):72 doi: 10.1186/s12882-021-02273-6.

55. Socioeconomic risk factors and age-related macular degeneration in the UK Biobank study. Yip JLY, Muthy Z, Peto T, et al, UK Biobank Eye and Vision Consortium. BMJ Open Ophthalmology 2021; 6(1): e000585 http://dx.doi.org/10.1136/bmjophth-2020-000585.

56. Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia. Tideman JWL, Pärssinen O, Haarman AEG, et al, UK Biobank Eye and Vision Consortium. JAMA Ophthalmol. 2021; doi: 10.1001/jamaophthalmol.2021.0497.

57. Macular thickness varies with age‑related macular degeneration genetic risk variants in the UK Biobank cohort. Kaye RA, Patasova K, Patel PJ, Hysi P, Lotery AJ; UK Biobank Eye and Vision Consortium. Sci Rep. 2021 Dec 1;11(1):23255. doi: 10.1038/s41598-021-02631-2.

58. The Association of Ambient Air Pollution With Cataract Surgery in UK Biobank Participants: Prospective Cohort Study. Chua SYL, Khawaja AP, Desai P, Rahi JS, Day AC, Hammond CJ, Khaw PT, Foster PJ. Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):7. doi: 10.1167/iovs.62.15.7.

59. Visual impairment and risk of dementia in two population-based prospective cohorts: UK Biobank and EPIC-Norfolk. Littlejohns TJ, Hayat S, Luben R, Brayne C, Conroy M, Foster PJ, Khawaja AP, Kuźma E. J Gerontol A Biol Sci Med Sci. 2021 Oct 27:glab325. doi: 10.1093/gerona/glab325.

60. Impact of Persisting Amblyopia on Socioeconomic, Health, and Well-Being Outcomes in Adult Life: Findings From the UK Biobank. Bountziouka V, Cumberland PM, Rahi JS. Value Health. 2021 Nov;24(11):1603-1611. doi: 10.1016/j.jval.2021.05.010.

61. Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. Currant H, Hysi P, Fitzgerald TW, et al. PLoS Genet. 2021 May12;17(5):e1009497. doi: 10.1371/journal.pgen.1009497.

62. Hyperopia Is Not Causally Associated With a Major Deficit in Educational Attainment. Plotnikov D, Sheehan NA, Williams C, Atan D, Guggenheim JA; UK Biobank Eye and Vision Consortium. Transl Vis Sci Technol. 2021 Oct 4;10(12):34. doi: 10.1167/tvst.10.12.34.

63. Associations of sleep apnoea with glaucoma and age-related macular degeneration: an analysis in the United Kingdom Biobank and the Canadian Longitudinal Study on Aging. Han X, Lee SS, Ingold N, McArdle N, Khawaja AP, MacGregor S, Mackey DA. BMC Med. 2021 May 11;19(1):104. doi: 10.1186/s12916-021-01973-y.

64. Automated Detection of Glaucoma With Interpretable Machine Learning Using Clinical Data and Multimodal Retinal Images. Mehta P, Petersen CA, Wen JC, Banitt MR, Chen PP, Bojikian KD, Egan C, Lee SI, Balazinska M, Lee AY, Rokem A; UK Biobank Eye and Vision Consortium. Am J Ophthalmol. 2021 Nov;231:154-169. doi: 10.1016/j.ajo.2021.04.021.

65. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Gharahkhani P, Jorgenson E, Hysi P, et al. Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4.

66. Alcohol Consumption and Incident Cataract Surgery in Two Large UK Cohorts. Chua SYL, Luben RN, Hayat S, Broadway DC, Khaw KT, Warwick A, Britten A, Day AC, Strouthidis N, Patel PJ, Khaw PT, Foster PJ, Khawaja AP; UK Biobank Eye and Vision Consortium. Ophthalmology. 2021 Jun;128(6):837-847. doi:10.1016/j.ophtha.2021.02.007.

67. Associations of Alcohol Consumption and Smoking with Disease Risk and Neurodegeneration in Individuals With Multiple Sclerosis in the United Kingdom. Kleerekooper I, Chua S, Foster PJ, Trip SA, Plant GT, Petzold A, Patel P; UK Biobank Eye and Vision Consortium. JAMA Netw Open. 2022 Mar 1;5(3):e220902. doi:10.1001/jamanetworkopen.2022.0902.

68. Assessing the Contribution of Genetic Nurture to Refractive Error. Guggenheim JA, Clark R, Zayats T, Williams C; UK Biobank Eye and Vision
Consortium. Eur J Hum Genet. 2022 May 27. doi: 10.1038/s41431-022-01126-6.

69. Retinal microvascular associations with cardiometabolic risk factors differ by diabetes status: results from the UK Biobank. Tapp RJ, Owen CG, Barman SA, Strachan DP, Welikala RA, Foster PJ, Whincup PH, Rudnicka AR; UK Biobank Eyes and Vision Consortium. Diabetologia. 2022 Jul 19. doi:10.1007/s00125-022-05745-y.

70. Artificial intelligence-enabled retinal vasculometry for prediction of circulatory mortality, myocardial infarction and stroke. Rudnicka AR, Welikala R, Barman S, Foster PJ, Luben R, Hayat S, Khaw KT, Whincup P, Strachan D, Owen CG. Br J Ophthalmol. 2022 Oct 4:bjophthalmol-2022-321842. doi:
10.1136/bjo-2022-321842.

71. UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases. Warwick AN, Curran K, Hamill B, Stuart K, Khawaja AP, Foster PJ, Lotery AJ, Quinn M, Madhusudhan S, Balaskas K, Peto T; UKBB Eye and Vision Consortium. Eye (Lond). 2022 Nov 3. doi:10.1038/s41433-022-02298-7.

72. Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia. Clark, R., Pozarickij, A., Hysi, P.G., Ohno-Matsui, K., Williams, C., Guggenheim, J.A; UK Biobank Eye and Vision Consortium. PLoS Genet. 2022 Nov 17;18(11):e1010478.

73. Whole exome sequence analysis in 51,624 participants identifies novel genes and variants associated with refractive error and myopia. Guggenheim, J.A., Clark, R., Cui, J., Terry, L., Patasova, K., Haarman, A.E.G., Musolf, A.M., Verhoeven, V.J.M., Klaver, C.C.W., Bailey-Wilson, J.E., Hysi, P.G., Williams, C., CREAM Consortium and UK Biobank Eye and Vision Consortium. Hum Mol Genet. 2022 Jun 4;31(11):1909-1919.

74. 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. Cumberland PM, Bountziouka V, Hammond CJ, Hysi PG, Rahi JS; UK Biobank Eye and Vision Consortium. PLoS One. 2022 Jan 19;17(1):e0260993.

75. Quantification and Predictors of OCT-Based Macular Curvature and Dome-Shaped Configuration: Results From the UK Biobank. Müller PL, Kihara Y, Olvera-Barrios A, Warwick AN, Egan C, Williams KM, Lee AY, Tufail A; UK Biobank Eyes and Vision Consortium. Invest Ophthalmol Vis Sci. 2022 Aug 2;63(9):28.

76. A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear. Patasova K, Khawaja AP, Wojciechowski R, Mahroo OA, Falchi M, Rahi JS,Hammond CJ, Hysi PG; UK Biobank Eye & Vision Consortium. Hum Mol Genet. 2022 Aug 25;31(17):3012-3019.

77. The Association of Alcohol Consumption with Glaucoma and Related Traits: Findings from the UK Biobank. Stuart KV, Luben RN, Warwick AN, et al; UK Biobank Eye and Vision Consortium. Ophthalmol Glaucoma. 2022 Dec 5:S2589-4196(22)00235-6.

78. A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration. Clark R, Lee SS-Y, Du R, et al; UK Biobank Eye and Vision Consortium. eBioMedicine 2023: doi: 10.1016/j.ebiom.2023.104551.

79. Plasma metabolite profile for primary open-angle glaucoma in three US cohorts and the UK Biobank. Zeleznik OA, Kang JH, Lasky-Su J, Eliassen AH, Frueh L, Clish CB, Rosner BA, Elze T, Hysi P, Khawaja A, Wiggs JL, Pasquale LR; UK Biobank Eye and Vision Consortium. Nat Commun. 2023 May 19;14(1):2860.

80. Statin Use in Relation to Intraocular Pressure, Glaucoma, and Ocular Coherence Tomography Parameters in the UK Biobank. Kim J, Kennedy Neary MT, Aschard H, et al; International Glaucoma Genetics Consortium (IGGC), UK Biobank Eye and Vision Consortium, and Modifiable Risk Factors for Glaucoma Collaboration. Invest Ophthalmol Vis Sci. 2022 May 2;63(5):31.

81. GWAS on retinal vasculometry phenotypes. Jiang X, Hysi PG, Khawaja AP, Mahroo OA, Xu Z, Hammond CJ, Foster PJ, Welikala RA, Barman SA, Whincup PH, Rudnicka AR, Owen CG, Strachan DP; UK Biobank Eye and Vision Consortium. PLoS Genet. 2023 Feb 9;19(2):e1010583.

82. The Association between Serum Lipids and Intraocular Pressure in 2 Large United Kingdom Cohorts. Madjedi KM, Stuart KV, Chua SYL, Luben RN, Warwick A, Pasquale LR, Kang JH, Wiggs JL, Lentjes MAH, Aschard H, Sattar N, Foster PJ, Khawaja AP; Modifiable Risk Factors for Glaucoma Collaboration and the UK Biobank Eye and Vision Consortium. Ophthalmology. 2022 Sep;129(9):986-996.

83. Associations Between HbA1c Across the Normal Range, Diagnosed, and Undiagnosed Diabetes and Retinal Layer Thickness in UK Biobank Cohort.Chua SYL, Welsh P, Sun Z, Balaskas K, Warwick A, Steel D, Sivaprasad S, Channa R, Ko T, Sattar N, Khawaja AP, Foster PJ, Patel PJ; UK Biobank Eye and Vision Consortium. Transl Vis Sci Technol. 2023 Feb 1;12(2):25.

84. Genetic Associations Between Smoking- and Glaucoma-Related Traits.Tran JH, Stuart KV, de Vries V, et al; UK Biobank Eye and Vision Consortium, and for the International Glaucoma Genetics Consortium. Transl Vis Sci Technol. 2023 Feb 1;12(2):20.

85. The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. Michaud V, Lasseaux E, Green DJ, Gerrard DT, Plaisant C; UK Biobank Eye and Vision Consortium; Fitzgerald T, Birney E, Arveiler B, Black GC, Sergouniotis PI. Nat Commun. 2022 Jul 8;13(1):3939.

86. Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation. Currant H, Fitzgerald TW, Patel PJ, Khawaja AP; UK Biobank Eye and Vision Consortium; Webster AR, Mahroo OA, Birney E. PLoS Genet. 2023 Feb 27;19(2):e1010587.

87. Optic radiations representing different eccentricities age differently. Kruper J, Benson NC, Caffarra S, Owen J, Wu Y, Lee AY, Lee CS, Yeatman JD, Rokem A; UK Biobank Eye and Vision Consortium. Hum Brain Mapp. 2023 Jun 1;44(8):3123-3135.

88. A foundation model for generalizable disease detection from retinal images. Zhou Y, Chia MA, Wagner SK, Ayhan MS, Williamson DJ, Struyven RR, Liu T, Xu M, Lozano MG, Woodward-Court P, Kihara Y; UK Biobank Eye & Vision Consortium; Altmann A, Lee AY, Topol EJ, Denniston AK, Alexander DC, Keane PA. Nature. 2023 Oct;622(7981):156-163.

89. Calcium Channel Blocker Use and Associated Glaucoma and Related Traits Among UK Biobank Participants. Kastner A, Stuart KV, Montesano G, De Moraes CG, Kang JH, Wiggs JL, Pasquale LR, Hysi P, Chua SYL, Patel PJ, Foster PJ, Khaw PT, Khawaja AP; UK Biobank Eye and Vision Consortium. JAMA Ophthalmol. 2023 Sep 7:e233877.

90. Associations of inner retinal layers with risk of incident dementia: An individual participant data analysis of four prospective cohort studies. van der Heide FCT, Khawaja A, Berendschot TTJM, et al; UK Biobank Eye & Vision Consortium; E3 consortium; Stehouwer CDA. Alzheimers Dement. 2023 Aug 8. doi: 10.1002/alz.13167.

91. Retinal Optical Coherence Tomography Features Associated With Incident and Prevalent Parkinson Disease. Wagner SK, Romero-Bascones D, Cortina-Borja M, et al; for UK Biobank Eye & Vision Consortium. Neurology. 2023 Aug 21:10.1212/WNL.0000000000207727.

92. The Association of Physical Activity with Glaucoma and Related Traits in the UK Biobank. Madjedi KM, Stuart KV, Chua SYL, Ramulu PY, Warwick A, Luben RN, Sun Z, Chia MA, Aschard H, Wiggs JL, Kang JH, Pasquale LR, Foster PJ, Khawaja AP; Modifiable Risk Factors for Glaucoma Collaboration and the UK Biobank Eye and Vision Consortium. Ophthalmology. 2023 Oct;130(10):1024-1036.

93. Cohort profile: rationale and methods of UK Biobank repeat imaging study eye measures to study dementia. Foster PJ, Atan D, Khawaja A, Lotery A, MacGillivray T, Owen CG, Patel PJ, Petzold A, Rudnicka A, Sun Z, Sheard S, Allen N; UK Biobank and UK Biobank Eye and Vision Consortium. BMJ Open. 2023 Jun 23;13(6):e069258.

94. An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank. Simcoe MJ, Arno G, Hysi PG, Ko T, Michaelides M, Hammond CJ, Patel PJ, Mahroo OA, Webster AR; UK Biobank Eye and Vision Consortium. Invest Ophthalmol Vis Sci. 2023 Jun 1;64(7):31.

95. Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden. Sekimitsu S, Xiang D, Smith SL, Curran K, Elze T, Friedman DS, Foster PJ, Luo Y, Pasquale LR, Peto T, Segrè AV, Shweikh Y, Warwick A, Zhao Y, Wiggs JL, Zebardast N; UK Biobank Eye and Vision Consortium. JAMA Ophthalmol. 2023 Sep 1;141(9):891-899.

96. Metabolite and Lipid Biomarkers Associated With Intraocular Pressure and Inner Retinal Morphology: 1H NMR Spectroscopy Results From the UK Biobank. Pasquale LR, Khawaja AP, Wiggs JL, Kim J, Hysi P, Elze T, Lasky-Su J, Kang JH, Zeleznik O; UK Biobank Eye and Vision Consortium. Invest Ophthalmol Vis Sci. 2023 Aug 1;64(11):11.

97. Differentiating glaucoma from chiasmal compression using optical coherence tomography: the macular naso-temporal ratio. Kleerekooper I, Wagner SK, Trip SA, Plant GT, Petzold A, Keane PA, Khawaja AP. Br J Ophthalmol. 2023 Jun 28:bjo-2023-323529.

98. Time Spent Outdoors Partly Accounts for the Effect of Education on Myopia. Clark R, Kneepkens SCM, Plotnikov D, Shah RL, Huang Y, Tideman JWL, Klaver CCW, Atan D, Williams C, Guggenheim JA; UK Biobank Eye and Vision Consortium. Invest Ophthalmol Vis Sci. 2023 Nov 1;64(14):38.

99. Associations between unilateral amblyopia in childhood and cardiometabolic disorders in adult life: a cross-sectional and longitudinal analysis of the UK Biobank. Wagner SK, Bountziouka V, Hysi P, Rahi JS; UK Biobank Eye and Vision Consortium. eClinicalMedicine. 2024 Mar 7.

100. Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis.
Loginovic P, Wang F, Li J, et al; UK Biobank Eye and Vision Consortium. Nature Communications. 2024 Feb 28;15(1):1415.

101. Smoking, Corneal Biomechanics, and Glaucoma: Results From Two Large Population-Based Cohorts. Stuart KV, Madjedi KM, Luben RN, Biradar MI, Wagner SK, Warwick AN, Sun Z, Hysi PG, Simcoe MJ, Foster PJ, Khawaja AP; UK Biobank Eye and Vision Consortium. Invest Ophthalmol Vis Sci. 2024 Jan 2;65(1):11.

102. Convolutional neural network-based classification of glaucoma using optic radiation tissue properties. Kruper J, Richie-Halford A, Benson NC, Caffarra S, Owen J, Wu Y, Egan C, Lee AY, Lee CS, Yeatman JD, Rokem A; UK Biobank Eye and Vision Consortium. Commun Med (Lond). 2024 Apr 11;4(1):72.

103. Relationship between Oral Health and Glaucoma Traits in the United Kingdom. Lee RH, Kang JH, Wiggs JL, Wagner SK, Khawaja AP, Pasquale LR; Modifiable Risk Factors for Glaucoma Collaboration, the UK Biobank Eye and Vision Consortium, and the International Glaucoma Genetics Consortium. J Glaucoma. 2024 Mar 5.

Non-Consortium members publications

1. Prediction of cardiovascular risk factors from retinal fundus photographs via deep learning. Poplin R, Varadarajan, AV, Blumer K, Liu Y, McConnell MV, Corrado GS, Peng L, Webster DR. Nature Biomedical Engineering. 2018 doi:10.1038/s41551-018-0195-0

2. Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. MacGregor S, Ong J-S, An J, et al, UK Biobank Eye and Vision Consortium. Nature Genetics 2018 https://doi.org/10.1038/s41588-018-0176-y.

3. Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort. Gao X.R, Huang H, Kim H, et al. Human Molecular Genetics Dec 2018 https://doi.org/10.1093/hmg/ddy422.

4. Monocular and binocular visual impairment in the UK Biobank study: prevalence, associations and diagnoses. McKibbin M, Farragher TM, Shickle D, et al. BMJ Open Ophthalmol. 2018 Jan 31;3(1):e000076 https://DOI: 10.1136/bmjophth-2017-000076

5. Deep Learning for Predicting Refractive Error From Retinal Fundus Images. Varadarajan AV, Poplin R, Blumer K, et al. Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):2861-2868 https://doi.org/10.1167/iovs.18-23887

6. Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies. Han X, Souzeau E, Ong JS, et al. JAMA Ophthalmol. 2019 Jan 1;137(1):28-35 doi:10.1001/jamaophthalmol.2018.4477

7. Analysis of genetic networks regulating refractive eye development in collaborative cross progenitor strain mice reveals new genes and pathways underlying human myopia. Tkatchenko TV, Shah R.L, Nagasaki T, et al. BMC Med Genomics July 2019 https://doi.org/10.1186/s12920-019-0560-1

8. Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes. Laville V, Jae H.K, Cousins C.C, et al. American Journal of Ophthalmology Oct 2019 https://doi.org/10.1016/j.ajo.2019.05.015

9. Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology. Han X,Qassim A, An J, et al. Human Mol Genetics Nov 2019 https://doi: 10.1093/hmg/ddz193

10. Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration. Han X,Ong JS, An J, et al. Eur J Epidemiol Jan 2020 https://doi.org/10.1007/s10654-019-00598-z

11. Detection of anaemia from retinal fundus images via deep learning. Mitani A, Huang A, Venugopalan S, et al. Nat Biomed Eng. 2020 Jan;4(1):18-27 doi: 10.1038/s41551-019-0487-z

12. Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration. Han X, Gharahkhani P, Mitchell P, et al. Hum Genet. 2020 Aug;65(8):657-665 https://doi.org/10.1038/s10038-020-0750-x

13. Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study. Han X, Ong JS, An J, et al. JAMA Ophthalmol. 2020 Jun 1;138(6):671-678 doi:10.1001/jamaophthalmol.2020.1231

14. Prevalence and demographics of multiple sclerosis-associated uveitis: a UK biobank study. Taylor TR, Jacobs BM, Giovannoni G, et al. . Mult Scler Relat Disord. 2020 Aug;43:102209 https://doi.org/10.1016/j.msard.2020.102209

15. Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. Winkler TW, Grassmann F, Brandl C, et al. BMC Med Genomics. 2020 Aug 26;13(1):120 https://doi.org/10.1186/s12920-020-00760-7

16. Plasma lipid levels and risk of primary open angle glaucoma: a genetic study using Mendelian randomization. Xu M, Li S, Zhu J, et al. BMC Ophthalmol. 2020 Oct 2;20(1):390 https://doi.org/10.1186/s12886-020-01661-0

17. The effects of eight serum lipid biomarkers on age-related macular degeneration risk: a Mendelian randomization study. Han X, Ong JS, Hewitt AW, et al. Int J Epidemiol. 2020 Nov 19:dyaa178 doi: 10.1093/ije/dyaa178

18. Prediction of systemic biomarkers from retinal photographs: development and validation of deep-learning algorithms. Rim TH, Lee G, Kim Y, et al. Lancet Digit Health. 2020 Oct;2(10):e526-e536 https://doi.org/10.1016/S2589-7500(20)30216-8

19. Chances and challenges of machine learning-based disease classification in genetic association studies illustrated on age-related macular degeneration. Guenther F, Brandl C, Winkler TW, et al. Genet Epidemiol. 2020 Oct;44(7):759-777 https://doi.org/10.1002/gepi.22336

20. Intraocular Pressure, Glaucoma, and Dietary Caffeine Consumption: A Gene-Diet Interaction Study from the UK Biobank. Kim J, Aschard H, Kang JH, et al. Ophthalmology 2020 https://doi.org/10.1016/j.ophtha.2020.12.009

21. Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations. Park J, Lucas AM, Zhang X, et al. Nat Med 2021;27(1):66-72 https://doi.org/10.1038/s41591-020-1133-8

22. Characteristics of Gln368Ter Myocilin variant and influence of polygenic risk on glaucoma penetrance in the UK Biobank. Zebardast N, Sekimitsu S, Wang J, et al, International Glaucoma Genetics Consortium (IGGC). Ophthalmology 2021 https://doi.org/10.1016/j.ophtha.2021.03.007.

23. Towards Stroke Biomarkers on Fundus Retinal Imaging: A Comparison Between Vasculature Embeddings and General Purpose Convolutional Neural Networks. Coronado I, Abdelkhaleq R, Yan J, et al. Annu Int Conf IEEE Eng Med Biol Soc. 2021 Nov;2021:3873-3876. doi: 10.1109/EMBC46164.2021.9629856.

24. Association of visual impairment with risk for future Parkinson's disease. Zhu Z, Hu W, Liao H, Tan Z, Chen Y, Shi D, Shang X, Zhang X, Huang Y, Yu H, Wang W, He M, Yang X. EClinicalMedicine. 2021 Nov 6;42:101189. doi: 10.1016/j.eclinm.2021.101189.

25. Adiposity by Differing Measures and the Risk of Cataract in the UK Biobank: The Importance of Diabetes. Shang X, Zhu Z, Zhang X, et al. Invest Ophthalmol Vis Sci. 2021 Nov 1;62(14):19. doi: 10.1167/iovs.62.14.19.

26. Deep Learning of the Retina Enables Phenome- and Genome-Wide Analyses of the Microvasculature. Zekavat SM, Raghu VK, Trinder M, et al. Circulation. 2022 Jan 11;145(2):134-150. doi: 10.1161/CIRCULATIONAHA.121.057709.

27. Associations of ophthalmic and systemic conditions with incident dementia in the UK Biobank. Shang X, Zhu Z, Huang Y, et al. Br J Ophthalmol. 2021 Sep 13:bjophthalmol-2021-319508. doi: 10.1136/bjophthalmol-2021-319508.

28. Visual Impairment and Risk of Dementia: The UK Biobank Study. Zhu Z, Shi D, Liao H, Ha J, Shang X, Huang Y, Zhang X, Jiang Y, Li L, Yu H, Hu W, Wang W, Yang X, He M. Am J Ophthalmol. 2021 Aug 22;235:7-14. doi: 10.1016/j.ajo.2021.08.010.

29. Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma. Siggs OM, Han X, Qassim A, et al. JAMA Ophthalmol. 2021 Sep 1;139(9):1023-1028. doi: 10.1001/jamaophthalmol.2021.2440.

30. Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA. Han X, Steven K, Qassim A, et al. Am J Hum Genet. 2021 Jul 1;108(7):1204-1216. doi: 10.1016/j.ajhg.2021.05.005.

31. Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.
Alipanahi B, Hormozdiari F, Behsaz B, et al. Am J Hum Genet. 2021 Jul 1;108(7):1217-1230. doi: 10.1016/j.ajhg.2021.05.004.

32. Genome-Wide Association Studies-Based Machine Learning for Prediction of Age-Related Macular Degeneration Risk. Yan Q, Jiang Y, Huang H, et al. Transl Vis Sci Technol. 2021 Feb 5;10(2):29. doi: 10.1167/tvst.10.2.29.

33. Predicting sex from retinal fundus photographs using automated deep learning. Korot E, Pontikos N, Liu X, Wagner SK, Faes L, Huemer J, Balaskas K, Denniston AK, Khawaja A, Keane PA. Sci Rep. 2021 May 13;11(1):10286. doi: 10.1038/s41598-021-89743-x.

34. Deep-learning-based cardiovascular risk stratification using coronary artery calcium scores predicted from retinal photographs. Rim TH, Lee CJ, Tham YC, et al. Lancet Digit Health. 2021 May;3(5):e306-e316. doi: 10.1016/S2589-7500(21)00043-1.

35. High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study. Plotnikov D, Huang Y, Khawaja AP, Foster PJ, Zhu Z, Guggenheim JA, He M. Invest Ophthalmol Vis Sci. 2022 Jun 1;63(6):29. doi: 10.1167/iovs.63.6.29.

36. Association between deep learning measured retinal vessel calibre and incident myocardial infarction in a retrospective cohort from the UK Biobank Wong YL, Yu M, Chong C, Yang D, Xu D, Lee ML, Hsu W, Wong TY, Cheng C, Cheung CY. BMJ Open. 2024 Mar 21;14(3):e079311.