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1. Eyetracking-enhanced VEP for nystagmus

Author

Matt J. Dunn, Perry Carter, Jay Self, Helena Lee, and Fatima Shawkat

Subjects
Medicine, Science
Abstract

Abstract Visual evoked potentials (VEPs) are an important prognostic indicator of visual ability in patients with nystagmus. However, VEP testing requires stable fixation, which is impossible with nystagmus. Fixation instability reduces VEP amplitude, and VEP reliability is therefore low in this important patient group. We investigated whether VEP amplitude can be increased using an eye tracker by triggering acquisition only during slow periods of the waveform. Data were collected from 10 individuals with early-onset nystagmus. VEP was obtained under continuous (standard) acquisition, or triggered during periods of low eye velocity, as detected by an eye tracker. VEP amplitude was compared using Bonferroni corrected paired samples t-tests. VEP amplitude is significantly increased when triggered during low eye velocity (95% CI 1.42–6.83 µV, t(15) = 3.25, p = 0.0053). This study provides proof-of-concept that VEP amplitude (and therefore prognostic reliability) can be increased in patients with early onset nystagmus by connecting an eye tracker and triggering acquisition during periods of lower eye velocity.

Published
2023
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2. Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

Author

William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, and Diana Baralle

Subjects
COPB1, COPI, β-COP, Microcephaly, Cataract, Xenopus model, Medicine, Genetics, QH426-470
Abstract

Abstract Background Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been implicated in human diseases known collectively as “coatopathies”. Methods Whole exome or genome sequencing of two families with a neuro-developmental syndrome, variable microcephaly and cataracts revealed biallelic variants in COPB1, which encodes the beta-subunit of COPI (β-COP). To investigate Family 1’s splice donor site variant, we undertook patient blood RNA studies and CRISPR/Cas9 modelling of this variant in a homologous region of the Xenopus tropicalis genome. To investigate Family 2’s missense variant, we studied cellular phenotypes of human retinal epithelium and embryonic kidney cell lines transfected with a COPB1 expression vector into which we had introduced Family 2’s mutation. Results We present a new recessive coatopathy typified by severe developmental delay and cataracts and variable microcephaly. A homozygous splice donor site variant in Family 1 results in two aberrant transcripts, one of which causes skipping of exon 8 in COPB1 pre-mRNA, and a 36 amino acid in-frame deletion, resulting in the loss of a motif at a small interaction interface between β-COP and β’-COP. Xenopus tropicalis animals with a homologous mutation, introduced by CRISPR/Cas9 genome editing, recapitulate features of the human syndrome including microcephaly and cataracts. In vitro modelling of the COPB1 c.1651T>G p.Phe551Val variant in Family 2 identifies defective Golgi to ER recycling of this mutant β-COP, with the mutant protein being retarded in the Golgi. Conclusions This adds to the growing body of evidence that COPI subunits are essential in brain development and human health and underlines the utility of exome and genome sequencing coupled with Xenopus tropicalis CRISPR/Cas modelling for the identification and characterisation of novel rare disease genes.

Published
2021
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3. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Author

Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V Harlalka, Michel Michaelides, Anthony T Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R Lupski, Frans P M Cremers, Raheel Qamar, Ahmed Salman, John Chilton, Jay Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A Sieving, Sheikh Riazuddin, Emma L Baple, S Amer Riazuddin, Andrew H Crosby, and J Fielding Hejtmancik

Subjects
Genetics, QH426-470
Abstract

We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, while siRNA knockdown of CLCC1 mRNA induced apoptosis in cultured ARPE-19 cells. TALEN KO in zebrafish was lethal 11 days post fertilization. The depressed electroretinogram (ERG) cone response and cone spectral sensitivity of 5 dpf KO zebrafish and reduced eye size, retinal thickness, and expression of rod and cone opsins could be rescued by injection of wild type CLCC1 mRNA. Clcc1+/- KO mice showed decreased ERGs and photoreceptor number. Together these results strongly suggest that intracellular chloride transport by CLCC1 is a critical process in maintaining retinal integrity, and CLCC1 is crucial for survival and function of retinal cells.

Published
2018
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5. 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

Author

Rosie Clark, Samantha Sze-Yee Lee, Ran Du, Yining Wang, Sander C.M. Kneepkens, Jason Charng, Yu Huang, Michael L. Hunter, Chen Jiang, J.Willem L. Tideman, Ronald B. Melles, Caroline C.W. Klaver, David A. Mackey, Cathy Williams, Hélène Choquet, Kyoko Ohno-Matsui, Jeremy A. Guggenheim, Joan E. Bailey-Wilson, Paul N. Baird, Veluchamy A. Barathi, Ginevra Biino, Kathryn P. Burdon, Harry Campbell, Li Jia Chen, Ching-Yu Cheng, Emily Y. Chew, Jamie E. Craig, Margaret M. Deangelis, Cécile Delcourt, Xiaohu Ding, Qiao Fan, Maurizio Fossarello, Paul J. Foster, Puya Gharahkhani, Xiaobo Guo, Annechien E.G. Haarman, Toomas Haller, Christopher J. Hammond, Xikun Han, Caroline Hayward, Mingguang He, Alex W. Hewitt, Quan Hoang, Pirro G. Hysi, Adriana I. Iglesias, Robert P. Igo, Sudha K. Iyengar, Jost B. Jonas, Mika Kähönen, Jaakko Kaprio, Anthony P. Khawaja, Barbara E. Klein, Jonathan H. Lass, Kris Lee, Terho Lehtimäki, Deyana Lewis, Qing Li, Shi-Ming Li, Leo-Pekka Lyytikäinen, Stuart MacGregor, Nicholas G. Martin, Akira Meguro, Andres Metspalu, Candace Middlebrooks, Masahiro Miyake, Nobuhisa Mizuki, Anthony Musolf, Stefan Nickels, Konrad Oexle, Chi Pui Pang, Olavi Pärssinen, Andrew D. Paterson, Norbert Pfeiffer, Ozren Polasek, Jugnoo S. Rahi, Olli Raitakari, Igor Rudan, Srujana Sahebjada, Seang-Mei Saw, Claire L. Simpson, Dwight Stambolian, E-Shyong Tai, Milly S. Tedja, J. Willem L. Tideman, Akitaka Tsujikawa, Cornelia M. van Duijn, Virginie J.M. Verhoeven, Veronique Vitart, Ningli Wang, Ya Xing Wang, Juho Wedenoja, Wen Bin Wei, Katie M. Williams, James F. Wilson, Robert Wojciechowski, Jason C.S. Yam, Kenji Yamashiro, Maurice K.H. Yap, Seyhan Yazar, Shea Ping Yip, Terri L. Young, Xiangtian Zhou, Naomi Allen, Tariq Aslam, Denize Atan, Sarah Barman, Jenny Barrett, Paul Bishop, Graeme Black, Catey Bunce, Roxana Carare, Usha Chakravarthy, Michelle Chan, Sharon Chua, Valentina Cipriani, Alexander Day, Parul Desai, Bal Dhillon, Andrew Dick, Alexander Doney, Cathy Egan, Sarah Ennis, Paul Foster, Marcus Fruttiger, John Gallacher, David Garway-Heath, Jane Gibson, Dan Gore, Jeremy Guggenheim, Chris Hammond, Alison Hardcastle, Simon Harding, Ruth Hogg, Pirro Hysi, Pearse A. Keane, Peng Tee Khaw, Anthony Khawaja, Gerassimos Lascaratos, Thomas Littlejohns, Andrew Lotery, Phil Luthert, Tom MacGillivray, Sarah Mackie, Bernadette McGuinness, Gareth McKay, Martin McKibbin, Danny Mitry, Tony Moore, James Morgan, Zaynah Muthy, Eoin O'Sullivan, Chris Owen, Praveen Patel, Euan Paterson, Tunde Peto, Axel Petzold, Nikolas Pontikos, Jugnoo Rahi, Alicja Rudnicka, Jay Self, Panagiotis Sergouniotis, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas Strouthidis, Cathie Sudlow, Robyn Tapp, Caroline Thaung, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Stephen Vernon, Ananth Viswanathan, Katie Williams, Jayne Woodside, Max Yates, Jennifer Yip, Yalin Zheng, Neurology, Ophthalmology, APH - Mental Health, APH - Methodology, Amsterdam Neuroscience - Neuroinfection & -inflammation, Epidemiology, Clinical Genetics, and Erasmus MC other

Subjects
All institutes and research themes of the Radboud University Medical Center, General Medicine, General Biochemistry, Genetics and Molecular Biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
Abstract

Contains fulltext : 292919.pdf (Publisher’s version ) (Open Access) BACKGROUND: High myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ -6.00 diopters (D), is a leading cause of sight impairment, through myopic macular degeneration (MMD). We aimed to derive an improved polygenic score (PGS) for predicting children at risk of HM and to test if a PGS is predictive of MMD after accounting for SER. METHODS: The PGS was derived from genome-wide association studies in participants of UK Biobank, CREAM Consortium, and Genetic Epidemiology Research on Adult Health and Aging. MMD severity was quantified by a deep learning algorithm. Prediction of HM was quantified as the area under the receiver operating curve (AUROC). Prediction of severe MMD was assessed by logistic regression. FINDINGS: In independent samples of European, African, South Asian and East Asian ancestry, the PGS explained 19% (95% confidence interval 17-21%), 2% (1-3%), 8% (7-10%) and 6% (3-9%) of the variation in SER, respectively. The AUROC for HM in these samples was 0.78 (0.75-0.81), 0.58 (0.53-0.64), 0.71 (0.69-0.74) and 0.67 (0.62-0.72), respectively. The PGS was not associated with the risk of MMD after accounting for SER: OR = 1.07 (0.92-1.24). INTERPRETATION: Performance of the PGS approached the level required for clinical utility in Europeans but not in other ancestries. A PGS for refractive error was not predictive of MMD risk once SER was accounted for. FUNDING: Supported by the Welsh Government and Fight for Sight (24WG201).

Published
2023

6. The Association of Alcohol Consumption with Glaucoma and Related Traits

Author

Kelsey V. Stuart, Robert N. Luben, Alasdair N. Warwick, Kian M. Madjedi, Praveen J. Patel, Mahantesh I. Biradar, Zihan Sun, Mark A. Chia, Louis R. Pasquale, Janey L. Wiggs, Jae H. Kang, Jihye Kim, Hugues Aschard, Jessica H. Tran, Marleen A.H. Lentjes, Paul J. Foster, Anthony P. Khawaja, Mark Chia, Sharon Chua, Ron Do, Paul Foster, Jae Kang, Alan Kastner, Anthony Khawaja, Marleen Lentjes, Robert Luben, Kian Madjedi, Giovanni Montesano, Louis Pasquale, Kelsey Stuart, Alasdair Warwick, Janey Wiggs, Naomi Allen, Tariq Aslam, Denize Atan, Sarah Barman, Jenny Barrett, Paul Bishop, Graeme Black, Tasanee Braithwaite, Roxana Carare, Usha Chakravarthy, Michelle Chan, Alexander Day, Parul Desai, Bal Dhillon, Andrew Dick, Alexander Doney, Cathy Egan, Sarah Ennis, Marcus Fruttiger, John Gallacher, David (Ted) Garway-Heath, Jane Gibson, Jeremy Guggenheim, Chris Hammond, Alison Hardcastle, Simon Harding, Ruth Hogg, Pirro Hysi, Pearse Keane, Peng Tee Khaw, Gerassimos Lascaratos, Thomas Littlejohns, Andrew Lotery, Phil Luthert, Tom MacGillivray, Sarah Mackie, Bernadette McGuinness, Gareth McKay, Martin McKibbin, Tony Moore, James Morgan, Eoin O'Sullivan, Richard Oram, Chris Owen, Praveen Patel, Euan Paterson, Tunde Peto, Axel Petzold, Nikolas Pontikos, Jugnoo Rahi, Alicja Rudnicka, Naveed Sattar, Jay Self, Panagiotis Sergouniotis, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas Strouthidis, Cathie Sudlow, Robyn Tapp, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Ananth Viswanathan, Veronique Vitart, Mike Weedon, Katie Williams, Cathy Williams, Jayne Woodside, Max Yates, Jennifer Yip, Yalin Zheng, Tin Aung, Kathryn Burdon, Li Chen, Ching-Yu Cheng, Jamie Craig, Angela Cree, Victor de Vries, Sjoerd Driessen, John Fingert, Puya Gharahkhani, Christopher Hammond, Caroline Hayward, Alex Hewitt, Nomdo Jansonius, Fridbert Jonansson, Jost Jonas, Michael Kass, Chiea Khor, Caroline Klaver, Jacyline Koh, Stuart MacGregor, David Mackey, Paul Mitchell, Calvin Pang, Francesca Pasutto, Norbert Pfeiffer, Ozren Polašek, Wishal Ramdas, Alexander Schuster, Ayellet Segrè, Einer Stefansson, Kári Stefánsson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Cornelia van Duijn, Joëlle Vergroesen, Eranga Vithana, James Wilson, Robert Wojciechowski, Tien Wong, and Terri Young

Subjects
General Medicine
Published
2022

7. The association between serum lipids and intraocular pressure in 2 large United Kingdom cohorts

Author

Kian M. Madjedi, Kelsey V. Stuart, Sharon Y.L. Chua, Robert N. Luben, Alasdair Warwick, Louis R. Pasquale, Jae H. Kang, Janey L. Wiggs, Marleen A.H. Lentjes, Hugues Aschard, Naveed Sattar, Paul J. Foster, Anthony P. Khawaja, Mark Chia, Ron Do, Alan Kastner, Jihye Kim, Giovanni Montesano, Denize Atan, Tariq Aslam, Sarah A. Barman, Jenny H. Barrett, Paul Bishop, Peter Blows, Catey Bunce, Roxana O. Carare, Usha Chakravarthy, Michelle Chan, David P. Crabb, Philippa M. Cumberland, Alexander Day, Parul Desai, Bal Dhillon, Andrew D. Dick, Cathy Egan, Sarah Ennis, Paul Foster, Marcus Fruttiger, John E.J. Gallacher, David F. Garway-Heath, Jane Gibson, Dan Gore, Jeremy A. Guggenheim, Chris J. Hammond, Alison Hardcastle, Simon P. Harding, Ruth E. Hogg, Pirro Hysi, Pearse A. Keane, Sir Peng T. Khaw, Gerassimos Lascaratos, Andrew J. Lotery, Tom Macgillivray, Sarah Mackie, Keith Martin, Michelle McGaughey, Bernadette McGuinness, Gareth J. McKay, Martin McKibbin, Danny Mitry, Tony Moore, James E. Morgan, Zaynah A. Muthy, Eoin O’Sullivan, Chris G. Owen, Praveen Patel, Euan Paterson, Tunde Peto, Axel Petzold, Jugnoo S. Rahi, Alicja R. Rudnikca, Jay Self, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas Strouthidis, Cathie Sudlow, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Veronique Vitart, Stephen A. Vernon, Ananth C. Viswanathan, Cathy Williams, Katie Williams, Jayne V. Woodside, MaxM. Yates, Jennifer Yip, Yalin Zheng, NIHR Biomedical Research Centre [London], Guy's and St Thomas' NHS Foundation Trust-King‘s College London, University of Calgary, University of Cambridge [UK] (CAM), University College of London [London] (UCL), Icahn School of Medicine at Mount Sinai [New York] (MSSM), Harvard Medical School [Boston] (HMS), Örebro University, Institut Pasteur [Paris] (IP), University of Glasgow, Supported by UCL Overseas Research Scholarship (K.V.S.), Fight for Sight, London, United Kingdom (grant no.: 1956A [K.V.S.]), The Desmond Foundation (K.V.S.), the Wellcome Trust (grant no.: 220558/Z/20/Z [A.W.]), Alcon (P.J.F.), United Kingdom Research and Innovation Future Leaders Fellowship (A.P.K.), Moorfields Eye Charity (Springboard Award [R.N.L.] and Career Development Fellowship [A.P.K.]), the National Eye Institute, National Institutes of Health, Bethesda, Maryland (grant nos.: EY015473 [L.R.P.], EY032559 [L.R.P.], [J.L.W.]), Research to Prevent Blindness, Inc., New York, New York (Challenge Grant [L.R.P., J.L.W.]), The Glaucoma Foundation, New York, New York (L.R.P.), Astra Zeneca (N.S.), Boehringer Ingelheim (N.S.), Novartis (N.S.), Roche Diagnostics (N.S.), Association for Research in Vision and Ophthalmology Foundation (David Epstein Award [J.L.W.]), and UK Research and Innovation Future Leaders Fellowship (Medical Research Council grant no.: MR/T040912/1 [A.P.K.]). The authors acknowledge a proportion of their financial support from the United Kingdom Department of Health through an award made by the National Institute for Health Research to Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology for a Biomedical Research Centre for Ophthalmology. This research used data from the UK Biobank Resource under data access request nos. 2112 and 36741. The UK Biobank Eye and Vision Consortium is supported by grants from Moorfields Eye Charity, The NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, the Alcon Research Institute, and the International Glaucoma Association (United Kingdom). The EPIC-Norfolk study was supported by the Medical Research Council, United Kingdom (grant nos.: SP2024/0201 and MR/N003284/1), and Cancer Research United Kingdom (grant nos.: G9502233 and C864/A8257)., Neurology, Ophthalmology, APH - Mental Health, APH - Methodology, and Amsterdam Neuroscience - Neuroinfection & -inflammation

Subjects
Intraocular pressure, Cholesterol, HDL, Glaucoma, Cholesterol, LDL, Middle Aged, Lipids, United Kingdom, Ophthalmology, Cross-Sectional Studies, Cholesterol, SDG 3 - Good Health and Well-being, RA0421, Risk Factors, Humans, RE, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Prospective Studies, Triglycerides, Aged
Abstract

Purpose: Serum lipids are modifiable, routinely collected blood test features associated with cardiovascular health. We examined the association of commonly collected serum lipid measures (total cholesterol [TC], high-density lipoprotein cholesterol [HDL-C], low-density lipoprotein cholesterol [LDL-C], and triglycerides) with intraocular pressure (IOP). Design: Cross-sectional study in the UK Biobank and European Prospective Investigation into Cancer and Nutrition (EPIC)-Norfolk cohorts. Participants: We included 94 323 participants from the UK Biobank (mean age, 57 years) and 6230 participants from the EPIC-Norfolk (mean age, 68 years) cohorts with data on TC, HDL-C, LDL-C, and triglycerides collected between 2006 and 2009. Methods: Multivariate linear regression adjusting for demographic, lifestyle, anthropometric, medical, and ophthalmic covariables was used to examine the associations of serum lipids with corneal-compensated IOP (IOPcc). Main Outcome Measures: Corneal-compensated IOP. Results: Higher levels of TC, HDL-C, and LDL-C were associated independently with higher IOPcc in both cohorts after adjustment for key demographic, medical, and lifestyle factors. For each 1-standard deviation increase in TC, HDL-C, and LDL-C, IOPcc was higher by 0.09 mmHg (95% confidence interval [CI], 0.06–0.11 mmHg; P < 0.001), 0.11 mmHg (95% CI, 0.08–0.13 mmHg; P < 0.001), and 0.07 mmHg (95% CI, 0.05–0.09 mmHg; P < 0.001), respectively, in the UK Biobank cohort. In the EPIC-Norfolk cohort, each 1-standard deviation increase in TC, HDL-C, and LDL-C was associated with a higher IOPcc by 0.19 mmHg (95% CI, 0.07–0.31 mmHg; P = 0.001), 0.14 mmHg (95% CI, 0.03–0.25 mmHg; P = 0.016), and 0.17 mmHg (95% CI, 0.06–0.29 mmHg; P = 0.003). An inverse association between triglyceride levels and IOP in the UK Biobank (–0.05 mmHg; 95% CI, –0.08 to –0.03; P < 0.001) was not replicated in the EPIC-Norfolk cohort (P = 0.30). Conclusions: Our findings suggest that serum TC, HDL-C, and LDL-C are associated positively with IOP in 2 United Kingdom cohorts and that triglyceride levels may be associated negatively. Future research is required to assess whether these associations are causal in nature.

Published
2022

8. Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort

Author

Anthony P. Khawaja, Sharon Chua, Pirro G. Hysi, Stelios Georgoulas, Hannah Currant, Tomas W. Fitzgerald, Ewan Birney, Fang Ko, Qi Yang, Charles Reisman, David F. Garway-Heath, Chris J. Hammond, Peng T. Khaw, Paul J. Foster, Praveen J. Patel, Nicholas Strouthidis, Denize Atan, Tariq Aslam, Sarah A. Barman, Jenny H. Barrett, Paul Bishop, Peter Blows, Catey Bunce, Roxana O. Carare, Usha Chakravarthy, Michelle Chan, Sharon Y.L. Chua, David P. Crabb, Philippa M. Cumberland, Alexander Day, Parul Desai, Bal Dhillon, Andrew D. Dick, Cathy Egan, Sarah Ennis, Paul Foster, Marcus Fruttiger, John E.J. Gallacher, Jane Gibson, Dan Gore, Jeremy A. Guggenheim, Alison Hardcastle, Simon P. Harding, Ruth E. Hogg, Pirro Hysi, Pearse A. Keane, Sir Peng T. Khaw, Gerassimos Lascaratos, Andrew J. Lotery, Tom Macgillivray, Sarah Mackie, Keith Martin, Michelle McGaughey, Bernadette McGuinness, Gareth J. McKay, Martin McKibbin, Danny Mitry, Tony Moore, James E. Morgan, Zaynah A. Muthy, Eoin O’Sullivan, Chris G. Owen, Praveen Patel, Euan Paterson, Tunde Peto, Axel Petzold, Jugnoo S. Rahi, Alicja R. Rudnikca, Jay Self, Sobha Sivaprasad, David Steel, Irene Stratton, Cathie Sudlow, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Veronique Vitart, Stephen A. Vernon, Ananth C. Viswanathan, Cathy Williams, Katie Williams, Jayne V. Woodside, Max M. Yates, Jennifer Yip, and Yalin Zheng

Subjects
0303 health sciences, Intraocular pressure, medicine.medical_specialty, Cross-sectional study, business.industry, Glaucoma, Retinal, medicine.disease, Confidence interval, 03 medical and health sciences, Ophthalmology, chemistry.chemical_compound, 0302 clinical medicine, Quartile, chemistry, 030221 ophthalmology & optometry, medicine, sense organs, business, Body mass index, 030304 developmental biology, Cohort study
Abstract

Purpose To describe and compare associations with macular retinal nerve fiber layer (mRNFL), ganglion cell complex (GCC), and ganglion cell–inner plexiform layer (GCIPL) thicknesses in a large cohort. Design Cross-sectional study. Participants We included 42 044 participants in the UK Biobank. The mean age was 56 years. Methods Spectral-domain OCT macular images were segmented and analyzed. Corneal-compensated intraocular pressure (IOPcc) was measured with the Ocular Response Analyzer (Reichert, Corp., Buffalo, NY). Multivariable linear regression was used to examine associations with mean mRNFL, GCC, and GCIPL thicknesses. Factors examined were age, sex, ethnicity, height, body mass index (BMI), smoking status, alcohol intake, Townsend deprivation index, education level, diabetes status, spherical equivalent, and IOPcc. Main Outcome Measures Thicknesses of mRNFL, GCC, and GCIPL. Results We identified several novel independent associations with thinner inner retinal thickness. Thinner inner retina was associated with alcohol intake (most significant for GCIPL: –0.46 μm for daily or almost daily intake compared with special occasion only or never [95% confidence interval (CI), 0.61–0.30]; P = 1.1×10–8), greater social deprivation (most significant for GCIPL: –0.28 μm for most deprived quartile compared with least deprived quartile [95% CI, –0.42 to –0.14]; P = 6.6×10–5), lower educational attainment (most significant for mRNFL: –0.36 μm for less than O level compared with degree level [95% CI, –0.45 to 0.26]; P = 2.3×10–14), and nonwhite ethnicity (most significant for mRNFL comparing blacks with whites: –1.65 μm [95% CI, –1.86 to –1.43]; P = 2.4×10–50). Corneal-compensated intraocular pressure was associated most significantly with GCIPL (–0.04 μm/mmHg [95% CI, –0.05 to –0.03]; P = 4.0×10–10) and was not associated significantly with mRNFL (0.00 μm/mmHg [95% CI, –0.01 to 0.01]; P = 0.77). The variables examined explained a greater proportion of the variance of GCIPL (11%) than GCC (6%) or mRNFL (7%). Conclusions The novel associations we identified may be important to consider when using inner retinal parameters as a diagnostic tool. Associations generally were strongest with GCIPL, particularly for IOP. This suggests that GCIPL may be the superior inner retinal biomarker for macular pathophysiologic processes and especially for glaucoma.

Published
2020

10. The lens

Author

Jay Self and Christopher Lloyd

Published
2017

11. List of Contributors

Author

Luis Amaya, Jane L Ashworth, Robert A Avery, Jack Bartram, Shannon J Beres, Gil Binenbaum, Valérie Biousse, Eileen E Birch, Susmito Biswas, Graeme C M Black, Joanna Black, Richard J C Bowman, John A Bradbury, Michael C Brodsky, Donal Brosnahan, Alejandra de Alba, Jayne E Camuglia, Susan M Carden, Giovanni Castano, Ingele Casteels, Yvonne Chung, Michael P Clarke, David K Coats, Richard Collin, John Crompton, Emmett T Cunningham, Joseph L Demer, Hélène Dollfus, Peter J Dolman, Sean P Donahue, Clive Edelsten, Alistair R Fielder, David R. FitzPatrick, Anne B Fulton, Brenda L Gallie, Megan Geloneck, Clare E Gilbert, Christy Giligson, Glen A Gole, William V Good, John R B Grigg, Hans Grossniklaus, Patrick Hamel, Sheryl M Handler, Ronald M Hansen, Gena Heidary, Richard W Hertle, Göran Darius Hildebrand, Graham E Holder, Creig S Hoyt, G Baker Hubbard, Amy K Hutchinson, Saurabh Jain, Robyn V Jamieson, Hanne Jensen, Nadja Kadom, Ramesh Kekunnaya, Robert C Kersten, Philippe Kestelyn, Jan E E Keunen, Peng Tee Khaw, Chong Ae Kim, Jan Koopman, Stephen P Kraft, Burton J Kushner, Scott R Lambert, G Robert LaRoche, Dorte Ancher Larsen, Andrew G Lee, Barry Lee, Phoebe Lenhart, Alki Liasis, Grant T Liu, Christopher Lloyd, Christopher J Lyons, Carey A Matsuba, Caroline J MacEwen, Alan A McNab, Vaishali Mehta, Michel Michaelides, Daniel Mojon, Hans Ulrik, Anthony T Moore, Andrew A M Morris, Nancy J Newman, Ken K Nischal, Una O'Colmain, Anna R O'Connor, Michael O'Keefe, Scott E Olitsky, Luis H Ospina, Darren T Oystreck, Maria Papadopoulos, Sunju Park, Evelyn A Paysse, Jason H Peragallo, Erika Mota Pereira, Rachel F Pilling, Stacy Pineles, Venkatesh Prajna, Frank Antony Proudlock, Narman Puvanachandra, Anthony G Quinn, Graham E Quinn, Jugnoo S Rahi, Michael X Repka, Joshua Robinson, Buddy Russell, Luis Carlos Ferreira de Sá, Virender Sachdeva, Daniel J Salchow, Richard L Scawn, Nicoline Schalij-Delfos, Mary J van Schooneveld, Jay Self, Panagiotis I Sergouniotis, Carol L Shields, Jerry A Shields, John J Sloper, Martin P Snead, Sameh E Soliman, Timothy John Sullivan, C Gail Summers, Kimberley Tan, David S Taylor, Dorothy A Thompson, Elias I Traboulsi, Stephen J Tuft, Jimmy M Uddin, Perumalsamy Vijayalakshmi, Patrick Watts, David R Weakley, and Jill Razor Wells

Published
2017

12. Reply

Author

Jay Self

Subjects
Ophthalmology, Pediatrics, Perinatology and Child Health, Endothelial Cells, Humans, Infant
Published
2019

13. The lens

Author

Jay Self and Christopher Lloyd

Published
2013

14. List of Contributors

Author

Nisha R Acharya, James F Acheson, Gillian G W Adams, John R Ainsworth, Alejandra de Alba Campomanes, Louise E Allen, Jane Louise Ashworth, Pinar Aydin, Valérie Biousse, Susmito Biswas, Graeme C M Black, Joanna Black, Thomas M Bosley, Richard J C Bowman, John A Bradbury, Michael C Brodsky, John L Brookes, Donal Brosnahan, J Raymond Buncic, Jayne E Camuglia, Susan M Carden, Ingele Casteels, Kara Cavuoto, Wilma Y Chang, Michael P Clarke, J Richard O Collin, John Crompton, Emmett T Cunningham, Kenneth K Dahn, Susan H Day, Hélène Dollfus, Gordon N Dutton, Clive Edelsten, James Elder, John S Elston, Alistair R Fielder, David R Fitzpatrick, Anne B Fulton, Peter J Francis, Douglas Frederick, Charlotte L Funnell, Brenda L Gallie, Megan M Geloneck, Clare E Gilbert, Glen A Gole, William V Good, Irene Gottlob, Philip G Griffiths, John R B Grigg, Christopher J Hammond, Nancy N Hanna, Georgina Hall, Ronald M Hansen, Yoshikazu Hatsukawa, Hugo W A Henderson, Richard W Hertle, Göran D Hildebrand, Melanie Hingorani, Peter Hodgkins, David A Hollander, Gerd S Holmström, Graham E Holder, Creig Hoyt, David G Hunter, Robyn V Jamieson, James E Jan, Saurabh Jain, Hanne Jensen, Rohit Jolly, Robert C Kersten, Phillippe Kestelyn, Peng T Khaw, Stephen P Kraft, Burton J Kushner, Robert A Kyle, Scott R Lambert, G Robert LaRoche, David Laws, Andrew G Lee, Alki Liasis, Christopher Lloyd, Christopher J Lyons, Caroline J MacEwen, D Luisa Mayer, Craig A McKeown, Stephen D McLeod, Michel Michaelides, Joel M Miller, Neil R Miller, Nor Fadhilah Mohamad, Hans Ulrik Møller, Anthony T Moore, Andrew Alan Myles Morris, Robert Morris, Anne Moskowitz, Nancy J Newman, Ken K Nischal, Hiroshi Nishikawa, Michael O’Keefe, Maria Papadopoulos, Manoj V Parulekar, Cameron F Parsa, Carlos E Pavesio, Derrick C Pau, Evelyn A Paysse, Erika Mota Pereira, Rachel Fiona Pilling, Venkatesh Prajna, Frank A Proudlock, Anthony Quinn, Graham E Quinn, Jugnoo S Rahi, Muralidhar Rajamani, M Ashwin Reddy, Michael X Repka, Bruce Richard, Jack Rootman, Isabelle M Russell-Eggitt, Tina Rutar, Luis Carlos Ferreira de Sá, Reecha Sachdeva, Mandeep Sagoo, Alison Salt, Alvina Pauline D Santiago, Richard L Scawn, Alan B Scott, Jay Self, Panagiotis Sergouniotis, Ankoor S Shah, Akbar Shakoor, Carol L Shields, Jerry A Shields, Ian Simmons, John J Sloper, Martin P Snead, Carlos R Souza-Dias, Jane C Sowden, Lynne Speedwell, Jay M Stewart, Yoshiko Sugiyama, Aileen Sy, Naomi Tan, David Taylor, Robert H Taylor, Dorothy A Thompson, Chris Timms, Elias I Traboulsi, Stephen John Tuft, Lawrence Tychsen, Jimmy M Uddin, Alain Verloes, Anthony J Vivian, Patrick Watts, David R Weakley, David Webb, James Edmond Wraith, and Patrick Yu-Wai-Man

Published
2013

15. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Author

D Atri, I., Li, L., Jiao, X., Ono, F., Nelson, R., Chan, C., Nakaya, N., Ma, Z., Ma, Y., Cai, X., Zhang, L., Lin, S., Hameed, A., Chioza, B. A., Hardy, H., Arno, G., Hull, S., Khan, M., Fasham, J., Harlalka, G. V., Michaelides, M., Moore, A. T., Akdemir, Z., Jhangiani, S., Lupski, J. R., Cremers, F. P. M., Qamar, R., Salman, A., Chilton, J. K., Jay Self, Kabir, F., Naeem, M., Ali, M., Akram, J., Sieving, P. A., Riazuddin, S., Hejtmancik, J., Baple, E. L., and Crosby, A. H.

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