Professor Jeremy Guggenheim

Professor in Myopia Research

School of Optometry and Vision Sciences

: guggenheimj1@cardiff.ac.uk
: +44 (0) 29 2087 4904
Fax:: +44 (0) 29 2087 4859
: 2.20, Maindy Road

: Available for postgraduate supervision

My research is aimed at discovering the causes of short-sightedness (myopia). Approximately 1 in 3 people in the United Kingdom suffer from myopia, and the condition increases the risk of a number of serious eye disorders. I have contributed to collaborative efforts with researchers from across the world, leading to the discovery of more than a hundred genetic variants that increase susceptibility to myopia.

Nobody yet knows how most of these genetic variants play a role in myopia development, nor how best they can be used to target and improve treatment.

Educational and Professional Qualifications

1989-1992: PhD, Cardiff University, UK

1988-1989: PQE (Optometry), British College of Optometrists

1985-1988: BSc (Hons) Optometry, UWIST (Cardiff University)

Career Overview

2013-2015 Assoc. Prof. & Assoc. Head, Optometry, Hong Kong Polytechnic University

2012-2013 Assoc. Prof., School of Optometry, Hong Kong Polytechnic University

2011-2012 Reader, School of Optometry & Vision Sciences, Cardiff University, UK

2006-2011 Senior Lecturer, School of Optometry & Vision Sciences, Cardiff University, UK

1994-2006 Lecturer, School of Optometry & Vision Sciences, Cardiff University, UK

Honours and awards

2012/2013 College of Optometrists, Biennial Arthur Bennett Prize for Outstanding Research Anywhere in the World

2022 Association for Research in Vision & Ophthalmology (ARVO) Gold Fellow Award

Professional memberships

1989 - present: Member of the College of Optometrists (MCOptom)

Academic positions

2013-2015 Assoc. Prof. & Assoc. Head, Optometry, Hong Kong Polytechnic University

2012-2013 Assoc. Prof., School of Optometry, Hong Kong Polytechnic University

2011-2012 Reader, School of Optometry & Vision Sciences, Cardiff University, UK

2006-2011 Senior Lecturer, School of Optometry & Vision Sciences, Cardiff University, UK

1994-2006 Lecturer, School of Optometry & Vision Sciences, Cardiff University, UK

Speaking engagements

Recent speaking engagements

Centro Oftalmologico Virgilio Galvis, Floridablanca, Colombia. 9 November 2021. “Recent developments in the genetics of myopia.”

Juzhou Symposium and international Myopia Conference, Chengdu, China. 27 October 2021. “Whole exome sequencing in 51,624 participants identifies novel genes and variants associated with myopia”.

Cardiff University Cornea-to-Cortex series. 24 March 2021. “Does education cause myopia?”

Manchester Optometry Meeting. 25 June 2021. Keynote Lecture: “Genetic prediction of myopia”

The Macular Society. Online Seminar. 30 July, 2020. “Current Myopia Research: from Bench to Kindergarten.”

Optometry Tomorrow, College of Optometrists. Telford, UK. 23-24 February, 2020. “Recent Developments in Myopia Research.”

UK Biobank Eye & Vision Consortium Annual Meeting 2020. Wellcome Trust, London. “Myopia Genetics Update.”

UK Biobank Eye & Vision Consortium Annual Meeting 2019. Wellcome Trust, London. “Evidence for widespread gene-environment interactions contributing to myopia.”

Ophthalmic Research Symposium, University of Tubingen Institute for Ophthalmic Research. 7 March, 2019. “The blurry line between genes and environment in causing myopia”.

19th DAKG Expertentagung & EurOK Congress, Hamburg, Germany. 20-21 October, 2018. “Epidemiology of myopia: Genetic and environmental risk factors.”

48th ECLSO (European Contact Lens Society of Ophthalmologists) congress, Mandelieu-La-Napoule, France. 14-15 September, 2018. “Epidemiology of myopia: Genetic and environmental risk factors.”

Committees and reviewing

University Committees

2015 - present: School Research Committee

2015 - present: School Research Audit Ethics Committee (Chair)

2017 - present: College Data Strategy Committee

Editorial Boards

2012 - present: Editorial Board Member, Ophthalmic & Physiological Optics (OPO)

2012 - present: Editorial Board Member, Translational Vision Science & Technology (TVST)

2023 - present: Associate Editor for Investigative Ophthalmology and Visual Science (IOVS)

Grant Panels

2020 - present: Fight for Sight UK grants assessment panel

Grant Reviewer

MRC, BBSRC, NIHR, Fight for Sight, Macular Society, College of Optometrists

2022

Guggenheim, J. A., Clark, R., Zayats, T., Williams, C. and UK Biobank Eye and Vision Consortium, . 2022. Assessing the contribution of genetic nurture to refractive error. European Journal of Human Genetics 30, pp. 1226-1232. (10.1038/s41431-022-01126-6)
Clark, R., Pozarickij, A., Hysi, P. G., Ohno-Matsui, K., Williams, C., Guggenheim, J. A. and UK Biobank Eye and Vision Consortium, . 2022. Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia. PLoS Genetics 18(11), article number: e1010478. (10.1371/journal.pgen.1010478)
Patasova, K. et al. 2022. Association analyses of rare variants identify two genes associated with refractive error. PLoS ONE 17(9), article number: e0272379. (10.1371/journal.pone.0272379)
Plotnikov, D., Huang, Y., Khawaja, A. P., Foster, P. J., Zhu, Z., Guggenheim, J. A. and He, M. 2022. High blood pressure and intraocular pressure: a Mendelian randomization study. Investigative Ophthalmology & Visual Science 63(6), article number: 29. (10.1167/iovs.63.6.29)
Guggenheim, J. A. et al. 2022. Whole exome sequence analysis in 51?624 participants identifies novel genes and variants associated with refractive error and myopia. Human Molecular Genetics 31(11), pp. 1909-1919. (10.1093/hmg/ddac004)
Lee, S. S. et al. 2022. Incidence and progression of myopia in early adulthood. JAMA Ophthalmology 140(2), pp. 162-169. (10.1001/jamaophthalmol.2021.5067)
Plotnikov, D., Pärssinen, O., Williams, C., Atan, D. and Guggenheim, J. A. 2022. Commonly occurring genetic polymorphisms with a major impact on the risk of nonsyndromic strabismus: replication in a sample from Finland. Journal of AAPOS 26(1), pp. 12.E1-12.E6. (10.1016/j.jaapos.2021.07.015)

2017

Cuellar-Partida, G. et al. 2017. Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study. International Journal of Epidemiology 46(6), pp. 1882-1890. (10.1093/ije/dyx068)
Guggenheim, J., Ghorbani Mojarrad, N., Williams, C. and Flitcroft, D. I. 2017. Genetic prediction of myopia: Prospects and challenges. Ophthalmic and Physiological Optics 37(5), pp. 549-556. (10.1111/opo.12403)
Dillingham, C. M., Guggenheim, J. A. and Erichsen, J. T. 2017. The effect of unilateral disruption of the centrifugal visual system on normal eye development in chicks raised under constant light conditions. Brain Structure and Function 222(3), pp. 1315-1330. (10.1007/s00429-016-1279-9)
Shah, R. L., Huang, Y., Guggenheim, J. A. and Williams, C. 2017. Time outdoors at specific ages during early childhood and the risk of incident myopia. Investigative Ophthalmology & Visual Science 58(2), pp. 1158-1166. (10.1167/iovs.16-20894)

2016

Tideman, J. W. L. et al. 2016. When do myopia genes have their effect? Comparison of genetic risks between children and adults. Genetic Epidemiology 40(8), pp. 756 -766. (10.1002/gepi.21999)
Guggenheim, J. A. and Williams, C. 2016. Response to: 'data from UK Biobank on febrile illness'. Eye 30(12), pp. 1651-1652. (10.1038/eye.2016.201)
Fan, Q. et al. 2016. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. Scientific Reports 6, article number: 25853. (10.1038/srep25853)
Fan, Q. et al. 2016. Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nature Communications 7, article number: 11008. (10.1038/ncomms11008)
Guggenheim, J. A. and Williams, C. 2016. Childhood febrile illness and the risk of myopia in UK Biobank participants. Eye 30, pp. 608-614. (10.1038/eye.2016.7)

2015

Guggenheim, J. A. and Williams, C. 2015. Role of educational exposure in the association between myopia and birth order. JAMA Ophthalmology 133(12), pp. 1408-1414. (10.1001/jamaophthalmol.2015.3556)
Tkatchenko, A. V. et al. 2015. APLP2 regulates refractive error and myopia development in mice and humans. PLoS Genetics 11(8), article number: e1005432. (10.1371/journal.pgen.1005432)
Guggenheim, J. A., St Pourcain, B., McMahon, G., Timpson, N. J., Evans, D. M. and Williams, C. 2015. Assumption-free estimation of the genetic contribution to refractive error across childhood. Molecular Vision 21, pp. 621-632.
Mahroo, O. A. et al. 2015. Interocular asymmetries in axial length and refractive error in 4 cohorts. Ophthalmology 122(3), pp. 648-649. (10.1016/j.ophtha.2014.10.021)

2014

Guggenheim, J. A. et al. 2014. Does vitamin D mediate the protective effects of time outdoors on myopia? Findings from a prospective birth cohort. Investigative Ophthalmology and Visual Science 55(12), pp. 8550-8558. (10.1167/iovs.14-15839)
Li, Q. et al. 2014. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Human Genetics 134(2), pp. 131-146. (10.1007/s00439-014-1500-y)

2013

Guggenheim, J. A. et al. 2013. Birth order and myopia. Ophthalmic Epidemiology 20(6), pp. 375-384. (10.3109/09286586.2013.848457))
Cheng, C. et al. 2013. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. American Journal of Human Genetics 93(2), pp. 264-277. (10.1016/j.ajhg.2013.06.016)
Dillingham, C. M., Guggenheim, J. A. and Erichsen, J. T. 2013. Disruption of the centrifugal visual system inhibits early eye growth in chicks. Investigative Ophthalmology and Visual Science 54(5), pp. 3632-3643. (10.1167/iovs.12-11548)
Wildsoet, C. F., Nickla, D. L., Guggenheim, J. A. and Logan, N. S. 2013. On the shoulders of a giant: his legacy will live on. Ophthalmic and Physiological Optics 33(3), pp. 193-195. (10.1111/opo.12064)
Northstone, K. et al. 2013. Body stature growth trajectories during childhood and the development of myopia. Ophthalmology 120(5), pp. 1064-1073., article number: e1. (10.1016/j.ophtha.2012.11.004)
Guggenheim, J. A. et al. 2013. Coordinated genetic scaling of the human eye: shared determination of axial eye length and corneal curvature. Investigative Ophthalmology & Visual Science 54(3), pp. 1715-1721. (10.1167/iovs.12-10560)
Hawthorne, F. et al. 2013. Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. Investigative Ophthalmology & Visual Science 54(3), pp. 2076-2086. (10.1167/iovs.12-11102)
Verhoeven, V. J. M. et al. 2013. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nature Genetics 45(3), pp. 314-318. (10.1038/ng.2554)
Hocking, P. M. and Guggenheim, J. A. 2013. The chick as an animal model of eye disease. Drug Discovery Today: Disease Models 10(4), pp. e225-e230. (10.1016/j.ddmod.2014.02.003)

2012

Guggenheim, J. A. et al. 2012. Time outdoors and physical activity as predictors of incident myopia in childhood: a prospective cohort study. Investigative Ophthalmology & Visual Science 53(6), pp. 2856-2865. (10.1167/iovs.11-9091)
Wang, L., Povazay, B., Guggenheim, J. A., Drexler, W. and Hofer, B. 2012. Graphics processing unit based dispersion encoded full-range frequency domain OCT. Optical Coherence Tomography And Coherence Domain Optical Methods In Biomedicine XVI 8213, pp. 2B-2D. (10.1117/12.911247)
Guggenheim, J. A. and Saw, S. 2012. Ocular epidemiology and genetics. Ophthalmic and Physiological Optics 32(1), pp. 1-2. (10.1111/j.1475-1313.2011.00890.x)
Verhoeven, V. J. M. et al. 2012. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Human Genetics, pp. n/a. (10.1007/s00439-012-1176-0)

2011

Wang, L., Povazay, B., Chen, Y. P., Hofer, B., Drexler, W. and Guggenheim, J. A. 2011. Heritability of ocular component dimensions in mice phenotyped using depth-enhanced swept source optical coherence tomography. Experimental Eye Research 93(4), pp. 482-490. (10.1016/j.exer.2011.06.008)
Chen, P. Y. P., Prashar, A., Erichsen, J. T., To, C., Hocking, P. M. and Guggenheim, J. A. 2011. Heritability of ocular component dimensions in chickens: genetic variants controlling susceptibility to experimentally induced myopia and pretreatment eye size are distinct. Investigative Ophthalmology and Visual Science 52(7), pp. 4012-4020. (10.1167/iovs.10-7045)
Mackey, D. A. et al. 2011. Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. Molecular Vision 17, pp. 2118-2128.
Chen, P. Y. et al. 2011. Selective breeding for susceptibility to myopia reveals a gene-environment interaction. Investigative Ophthalmology and Visual Science 52(7), pp. 4003-4011. (10.1167/iovs.10-7044)

2010

Metlapally, R. et al. 2010. Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Investigative Ophthalmology and Visual Science 51(9), pp. 4476-4479. (10.1167/iovs.09-4912)
Guggenheim, J. A., Zayats, T., Hammond, C. and Young, T. L. 2010. Lumican and muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia [Correspondence]. Eye 24(8), pp. 1411-1412. (10.1038/eye.2010.55)
Wang, L., Hofer, B., Chen, P. Y., Guggenheim, J. A., Drexler, W. and Považay, B. 2010. Highly reproducible swept-source, dispersion-encoded full-range biometry and imaging of the mouse eye. Journal of Biomedical Optics 15(4), article number: 46004. (10.1117/1.3463480)
Chen, P. Y., Prashar, A., Hocking, P. M., Erichsen, J. T., To, C., Schaeffel, F. and Guggenheim, J. A. 2010. Sex, eye size, and the rate of myopic eye growth due to form deprivation in outbred white leghorn chickens. Investigative Ophthalmology and Visual Science 51(2), pp. 651-657. (10.1167/iovs.09-3826)
Tattersall, R. J., Prashar, A., Singh, K. D., Tokarczuk, P. F., Erichsen, J. T., Hocking, P. M. and Guggenheim, J. A. 2010. Ex vivo magnetic resonance imaging of crystalline lens dimensions in chicken. Molecular Vision 16(18), pp. 144-153.

2009

Metlapally, R. et al. 2009. COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Investigative Ophthalmology and Visual Science 50(9), pp. 4080-4086. (10.1167/iovs.08-3346)
Li, Y. et al. 2009. An international collaborative family-based whole-genome linkage scan for high-grade myopia. Investigative Ophthalmology & Visual Science 50(7), pp. 3116-3127. (10.1167/iovs.08-2781)
Zayats, T., Young, T. L., Mackey, D. A., Malecaze, F., Calvas, P. and Guggenheim, J. A. 2009. Quality of DNA extracted from mouthwashes. PLoS ONE 4(7), article number: e6165. (10.1371/journal.pone.0006165)
Prashar, A., Hocking, P. M., Erichsen, J. T., Fan, Q., Saw, S. M. and Guggenheim, J. A. 2009. Common determinants of body size and eye size in chickens from an advanced intercross line. Experimental Eye Research 89(1), pp. 42-48. (10.1016/j.exer.2009.02.008)
McMahon, G., Zayats, T., Chen, Y., Prashar, A., Williams, C. and Guggenheim, J. A. 2009. Season of birth, daylight hours at birth, and high myopia. Ophthalmology 116(3), pp. 468-473. (10.1016/j.ophtha.2008.10.004)
Goodall, N. et al. 2009. 3-Dimensional modelling of chick embryo eye development and growth using high resolution magnetic resonance imaging. Experimental Eye Research 89(4), pp. 511-521. (10.1016/j.exer.2009.05.014)
Zayats, T., Yanovitch, T., Creer, R. C., McMahon, G., Li, Y., Young, T. L. and Guggenheim, J. A. 2009. Myocilin polymorphisms and high myopia in subjects of European origin. Molecular vision 15(20-23), pp. 213-222.

2008

Guggenheim, J. A., Zayats, T., Prashar, A. and To, C. H. 2008. Axes of astigmatism in fellow eyes show mirror rather than direct symmetry. Ophthalmic And Physiological Optics 28(4), pp. 327-333. (10.1111/j.1475-1313.2008.00576.x)
Zayats, T., Guggenheim, J. A., Hammond, C. J. and Young, T. L. 2008. Comment on 'A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia'. Eye 22(4), pp. 598-599. (10.1038/sj.eye.6703096)

2007

Tse, D. Y., Lam, C. S., Guggenheim, J. A., Lam, C., Li, K., Liu, Q. and To, C. 2007. Simultaneous defocus integration during refractive development. Investigative Ophthalmology and Visual Science 48(12), pp. 5352-5359. (10.1167/iovs.07-0383)
Lam, T. C., Li, K., Lo, S. C. L., Guggenheim, J. A. and To, C. H. 2007. Application of fluorescence difference gel electrophoresis technology in searching for protein biomarkers in chick myopia. Journal of Proteome Research 6(11), pp. 4135-4149. (10.1021/pr0701097)
Prashar, A., Guggenheim, J. A., Erichsen, J. T., Hocking, P. M. and Morgan, J. E. 2007. Measurement of intraocular pressure (IOP) in chickens using a rebound tonometer: Quantitative evaluation of variance due to position inaccuracies. Experimental Eye Research 85(4), pp. 563-571. (10.1016/j.exer.2007.07.010)
Albon, J. et al. 2007. Connective tissue structure of the tree shrew optic nerve and associated ageing changes. Investigative Ophthalmology and Visual Science 48(5), pp. 2134-2144. (10.1167/iovs.06-0084)

2005

Qin, X., Margrain, T. H., To, C. H., Bromham, N. R. and Guggenheim, J. A. 2005. Anisometropia is independently associated with both spherical and cylindrical ametropia. Investigative Ophthalmology & Visual Science 46(11), pp. 4024-4031. (10.1167/iovs.05-0120)
Guggenheim, J. A. and Farbrother, J. E. 2005. A deficit in visits to the optometrist by preschool age children: implications for vision screening. British Journal of Ophthalmology 89(2), pp. 246-247. (10.1136/bjo.2004.052027)

2004

Davies, N., Akhtar, S., Turner, H. C., Candia, O. A., To, C. H. and Guggenheim, J. A. 2004. Chloride channel gene expression in the rabbit cornea. Molecular Vision 10(122-23), pp. 1028-1037.
Farbrother, J. E., Kirov, G., Owen, M. J. and Guggenheim, J. A. 2004. Family aggregation of high myopia: estimation of the sibling recurrence risk ratio. Investigative Ophthalmology and Visual Science 45(9), pp. 2873-2878. (10.1167/iovs.03-1155)
Farbrother, J. E., Kirov, G., Owen, M. J., Pong-Wong, R., Haley, C. S. and Guggenheim, J. A. 2004. Linkage analysis of the genetic loci for high myopia on chromosomes 18p, 12q and 17q in 51 UK families. Investigative Ophthalmology and Visual Science 45(9), pp. 2879-2885. (10.1167/iovs.03-1156)

2003

Guggenheim, J. A., Hill, C. and Yam, T. 2003. Myopia, genetics, and ambient lighting at night in a UK sample. British Journal of Ophthalmology 87(5), pp. 580-582. (10.1136/bjo.87.5.580)
Farbrother, J. E., Kirov, G., Owen, M. J. and Guggenheim, J. A. 2003. Linkage analysis of 18p, 12q and 17q high myopia loci in 51 UK families. Investigative ophthalmology & visual science 44(E-Abst)

2002

Guggenheim, J. A., Erichsen, J. T., Hocking, P. M., Wright, N. F. and Black, R. 2002. Similar genetic susceptibility to form-deprivation myopia in three strains of chicken. Vision Research 42(25), pp. 2747-2756. (10.1016/S0042-6989(02)00383-8)
Farbrother, J. E., Farrow, E., Black, R., Fletcher, H. and Guggenheim, J. A. 2002. Genetic epidemiology of high myopia: prevalence of myopia in siblings and parents of high myopes. Investigative Ophthalmology and Visual Science 43(E-Abst)

2001

Davies, N., Guggenheim, J. A. and Wigham, C. 2001. PCR-based investigations of chloride channels in rabbit corneal endothelium. Investigative Ophthalmology & Visual Science 42(4), pp. S275-S275.

Currently I am module leader for the Investigative Technqiues undergraduate course.

Research Topics and Related Projects

Translating myopia genetics discoveries into strategies for early detection and mechanistic insight

Collaborators: Dr Cathy Williams (University of Bristol, UK) and Professor Kyoko Ohno-Matsui (Tokyo Medical and
Dental University, Japan).

This study is funded jointly by the Welsh Assembly government and the eye research charity, Fight for Sight. It aims to discover if genetic information can help detect patients with high myopia who are at most risk of developing sight-threatening changes such as myopic maculopathy.

The Consortium for Refractive Error and Myopia (CREAM)

Collaborators: More than 30 teams of researchers from across the world.

The CREAM consortium carry out collaborative projects designed to identify genetic risk factors for refractive errors. Projects are co-ordinated by working groups, involving teams of researchers with expertise in genetics, biostatistics and ophthalmology. I co-Chair of the Astigmatism Working Group (with Joan Bailey-Wilson, NIH/NHGRI, USA) and the Longitudinal Studies Working Group (with Cathy Williams, Bristol, UK).

The UK Biobank Eye and Vision Consortium is a team of researchers working collaboratively to identify risk factors for eye diseases in the UK and to develop new treatments, by studying participants of UK Biobank.

Past Postgraduate Student (with degree and year submitted)

Michael Frost PhD 2000

Natalie Davies PhD 2002

Jane Farbrother PhD 2003

Carolina Chan PhD 2005

Rosalind Creer PhD 2006

Tetyana Zayats MD PhD 2009

Yen-Po (Paul) Chen MD PhD 2010

George McMahon PhD 2010

Chris Dillingham PhD 2012

Rupal Shah PhD 2018

Yvonne Huang Yu MD PhD 2018

Neema Ghorbani Mojarrad PhD 2020

Alfred Pozarickij PhD 2020

Denis Plotnikov MD PhD 2020

Professor Jeremy Guggenheim

Overview

Biography