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Article ; Online: Rhegmatogenous Retinal Detachment in the Age of Genomic Medicine.

Hysi, Pirro G / Simcoe, Mark J

2020 Volume 138, Issue 6, Page(s) 678–679

MeSH term(s)	Biological Specimen Banks ; Genomics ; Humans ; Intraocular Pressure ; Medicine ; Mendelian Randomization Analysis ; Myopia ; Retinal Detachment ; United Kingdom
Language	English
Publishing date	2020-04-30
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	2701705-9
ISSN	2168-6173 ; 2168-6165
ISSN (online)	2168-6173
ISSN	2168-6165
DOI	10.1001/jamaophthalmol.2020.1240
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Article ; Online: The Slowly Emerging Uniqueness of the High Myopia Genetic Architecture.

Patasova, Karina / Hysi, Pirro G

Ophthalmology

2020 Volume 127, Issue 12, Page(s) 1625–1626

MeSH term(s)	Asian Continental Ancestry Group ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Myopia/genetics ; Nervous System
Language	English
Publishing date	2020-11-22
Publishing country	United States
Document type	Editorial ; Comment
ZDB-ID	392083-5
ISSN	1549-4713 ; 0161-6420
ISSN (online)	1549-4713
ISSN	0161-6420
DOI	10.1016/j.ophtha.2020.07.035
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Article ; Online: At What Age Does Age-Related Macular Degeneration Start?

Khan, Adnan H / Hysi, Pirro G / Lotery, Andrew J

JAMA ophthalmology

2021 Volume 139, Issue 11, Page(s) 1226–1227

MeSH term(s)	Humans ; Macular Degeneration/diagnosis
Language	English
Publishing date	2021-10-20
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	2701705-9
ISSN	2168-6173 ; 2168-6165
ISSN (online)	2168-6173
ISSN	2168-6165
DOI	10.1001/jamaophthalmol.2021.4104
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Article ; Online: 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, Phillippa M / Bountziouka, Vasiliki / Hammond, Christopher J / Hysi, Pirro G / Rahi, Jugnoo S

PloS one

2022 Volume 17, Issue 1, Page(s) e0260993

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, ... ...

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.
MeSH term(s)	Myopia
Language	English
Publishing date	2022-01-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0260993
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Article ; Online: Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia.

Clark, Rosie / Pozarickij, Alfred / Hysi, Pirro G / Ohno-Matsui, Kyoko / Williams, Cathy / Guggenheim, Jeremy A

PLoS genetics

2022 Volume 18, Issue 11, Page(s) e1010478

Abstract: Myopia most often develops during school age, with the highest incidence in countries with intensive education systems. Interactions between genetic variants and educational exposure are hypothesized to confer susceptibility to myopia, but few such ... ...

Abstract	Myopia most often develops during school age, with the highest incidence in countries with intensive education systems. Interactions between genetic variants and educational exposure are hypothesized to confer susceptibility to myopia, but few such interactions have been identified. Here, we aimed to identify genetic variants that interact with education level to confer susceptibility to myopia. Two groups of unrelated participants of European ancestry from UK Biobank were studied. A 'Stage-I' sample of 88,334 participants whose refractive error (avMSE) was measured by autorefraction and a 'Stage-II' sample of 252,838 participants who self-reported their age-of-onset of spectacle wear (AOSW) but who did not undergo autorefraction. Genetic variants were prioritized via a 2-step screening process in the Stage-I sample: Step 1 was a genome-wide association study for avMSE; Step 2 was a variance heterogeneity analysis for avMSE. Genotype-by-education interaction tests were performed in the Stage-II sample, with University education coded as a binary exposure. On average, participants were 58 years-old and left full-time education when they were 18 years-old; 35% reported University level education. The 2-step screening strategy in the Stage-I sample prioritized 25 genetic variants (GWAS P < 1e-04; variance heterogeneity P < 5e-05). In the Stage-II sample, 19 of the 25 (76%) genetic variants demonstrated evidence of variance heterogeneity, suggesting the majority were true positives. Five genetic variants located near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C had evidence of a genotype-by-education interaction in the Stage-II sample (P < 0.002) and consistent evidence of a genotype-by-education interaction in the Stage-I sample. For all 5 variants, University-level education was associated with an increased effect of the risk allele. In this cohort, additional years of education were associated with an enhanced effect of genetic variants that have roles including axon guidance and the development of neuronal synapses and neural circuits.
MeSH term(s)	Humans ; Middle Aged ; Adolescent ; Genome-Wide Association Study ; Myopia/genetics ; Educational Status ; Refractive Errors/genetics ; Alleles ; RNA Splicing Factors/genetics
Chemical Substances	RBFOX1 protein, human ; RNA Splicing Factors
Language	English
Publishing date	2022-11-17
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2186725-2
ISSN	1553-7404 ; 1553-7390
ISSN (online)	1553-7404
ISSN	1553-7390
DOI	10.1371/journal.pgen.1010478
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Article ; Online: Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study.

Jarrar, Zakariya A / Ansari, Abdus Samad / Williams, Katie M / Wong, Dominic S / Hysi, Pirro G / Mahroo, Omar A / Hammond, Christopher J

Investigative ophthalmology & visual science

2023 Volume 64, Issue 10, Page(s) 9

Abstract: Purpose: The relative importance of genetic factors in common vitreomacular interface (VMI) abnormalities is unknown. The aim of this classical twin study is to determine the prevalence case wise concordance between monozygotic and dizygotic twin pairs, ...

Abstract	Purpose: The relative importance of genetic factors in common vitreomacular interface (VMI) abnormalities is unknown. The aim of this classical twin study is to determine the prevalence case wise concordance between monozygotic and dizygotic twin pairs, and heritability of common VMI abnormalities, including epiretinal membrane (ERM), posterior vitreous detachment (PVD), vitreomacular adhesion (VMA), vitreomacular traction (VMT), lamellar macular holes (LMHs), and full-thickness macular holes (FTMHs). Methods: This is a single-center, cross-sectional classical twin study of 3406 TwinsUK participants over the age of 40 years who underwent spectral domain macular optical coherence tomography (SD-OCT) scans which were graded for signs of VMI abnormalities. Case wise concordance was calculated and the heritability of each VMI abnormality was estimated using OpenMx structural equation modeling. Results: In this population (mean age = 62.0 years [SD = 10.4 years], range = 40-89 years) the overall prevalence of ERM was 15.6% (95% confidence interval [CI] = 14.4-16.9) and increased with age, posterior vitreous detachment affected 21.3% (20.0-22.7), and VMA was diagnosed in 11.8% (10.8-13.0). Monozygotic twins were more concordant for all traits than dizygotic twins, and age, spherical equivalent refraction (SER), and lens status-adjusted heritability was estimated at 38.9% (95% CI = 33.6-52.8) for ERM, 53.2% (95% CI = 41.8-63.2) for PVD, and 48.1% (95% CI = 33.6-58) for VMA. Conclusions: Common VMI abnormalities are heritable and therefore have an underlying genetic component. Given the sight-threatening potential of VMI abnormalities, further genetic studies, such as genomewide association studies, would be useful to identify genes and pathways implicated in their pathogenesis.
MeSH term(s)	Humans ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Vitreous Detachment/diagnosis ; Vitreous Detachment/epidemiology ; Vitreous Detachment/genetics ; Retinal Perforations/diagnosis ; Retinal Perforations/epidemiology ; Retinal Perforations/genetics ; Vitreous Body/pathology ; Prevalence ; Cross-Sectional Studies ; Retinal Diseases/diagnosis ; Retinal Diseases/epidemiology ; Retinal Diseases/genetics ; Epiretinal Membrane/epidemiology ; Epiretinal Membrane/genetics ; Epiretinal Membrane/diagnosis ; Orbital Diseases ; Tomography, Optical Coherence/methods ; Retrospective Studies
Language	English
Publishing date	2023-07-03
Publishing country	United States
Document type	Twin Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	391794-0
ISSN	1552-5783 ; 0146-0404
ISSN (online)	1552-5783
ISSN	0146-0404
DOI	10.1167/iovs.64.10.9
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Article ; Online: Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability.

Jarrar, Zakariya A / Al-Nosairy, Khaldoon O / Jiang, Xiaofan / Lamin, Ali / Wong, Dominic / Ansari, Abdus S / Williams, Katie M / Sivaprasad, Sobha / Hoffmann, Michael B / Hysi, Pirro G / Hammond, Christopher J / Mahroo, Omar A

Investigative ophthalmology & visual science

2024 Volume 65, Issue 2, Page(s) 26

Abstract: Purpose: Temporal-to-nasal macular ganglion cell layer thickness ratios are reduced in albinism. We explored similar ratios in a large twin cohort to investigate ranges in healthy adults, correlations with age, and heritability.: Methods: More than ... ...

Abstract	Purpose: Temporal-to-nasal macular ganglion cell layer thickness ratios are reduced in albinism. We explored similar ratios in a large twin cohort to investigate ranges in healthy adults, correlations with age, and heritability. Methods: More than 1000 twin pairs from TwinsUK underwent macular optical coherence tomography (OCT) scans. Automated segmentation yielded thicknesses for the combined ganglion cell and inner plexiform layer (GCIPL) in Early Treatment of Diabetic Retinopathy Study subfields. Participants with diseases likely to affect these layers or segmentation accuracy were excluded. Inner and outer ratios were defined as the ratio of temporal-to-nasal GCIPL thickness for inner and outer subfields respectively. Corresponding ratios were obtained from a smaller cohort undergoing OCTs with a different device (three-dimensional (3D)-OCT, Topcon, Japan). Results: Scans from 2300 twins (1150 pairs) were included (mean [SD] age, 53.9 (16.5) years). Mean (SD) inner and outer ratios were 0.89 (0.09) and 0.84 (0.11), correlating negatively with age (coefficients, -0.17 and -0.21, respectively). In males (150 pairs) ratios were higher and did not correlate significantly with age. Intrapair correlation coefficients were higher in monozygotic than dizygotic pairs; age-adjusted heritability estimates were 0.20 and 0.23 for inner and outer ratios, respectively. For the second cohort (n = 166), mean (SD) ratios were 0.93 (0.08) and 0.91 (0.09), significantly greater than for the larger cohort. Conclusions: Our study gives reference values for temporal-to-nasal macular GCIPL subfield ratios. Weak negative correlations with age emerged. Genetic factors may contribute to ∼20% to 23% of the variance in healthy individuals. The ratios differ according to the OCT platform used.
MeSH term(s)	Adult ; Male ; Humans ; Middle Aged ; Cross-Sectional Studies ; Retina ; Neurons ; Diabetic Retinopathy ; Nerve Fibers ; Tomography, Optical Coherence/methods
Language	English
Publishing date	2024-01-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	391794-0
ISSN	1552-5783 ; 0146-0404
ISSN (online)	1552-5783
ISSN	0146-0404
DOI	10.1167/iovs.65.2.26
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Article ; Online: Smoking, Corneal Biomechanics, and Glaucoma: Results From Two Large Population-Based Cohorts.

Stuart, Kelsey V / Madjedi, Kian M / Luben, Robert N / Biradar, Mahantesh I / Wagner, Siegfried K / Warwick, Alasdair N / Sun, Zihan / Hysi, Pirro G / Simcoe, Mark J / Foster, Paul J / Khawaja, Anthony P

Investigative ophthalmology & visual science

2024 Volume 65, Issue 1, Page(s) 11

Abstract: Purpose: Smoking may influence measured IOP through an effect on corneal biomechanics, but it is unclear whether this factor translates into an increased risk for glaucoma. This study aimed to examine the association of cigarette smoking with corneal ... ...

Abstract	Purpose: Smoking may influence measured IOP through an effect on corneal biomechanics, but it is unclear whether this factor translates into an increased risk for glaucoma. This study aimed to examine the association of cigarette smoking with corneal biomechanical properties and glaucoma-related traits, and to probe potential causal effects using Mendelian randomization (MR). Methods: Cross-sectional analyses within the UK Biobank (UKB) and Canadian Longitudinal Study on Aging (CLSA) cohorts. Multivariable linear and logistic regression models were used to assess associations of smoking (status, intensity, and duration) with corneal hysteresis (CH), corneal resistance factor, IOP, inner retinal thicknesses, and glaucoma. Two-sample MR analyses were performed. Results: Overall, 68,738 UKB (mean age, 56.7 years; 54.7% women) and 22 845 CLSA (mean age, 62.7 years; 49.1% women) participants were included. Compared with nonsmokers, smokers had a higher CH (UKB, +0.48 mm Hg; CLSA, +0.57 mm Hg; P < 0.001) and corneal resistance factor (UKB, +0.47 mm Hg; CLSA, +0.60 mm Hg; P < 0.001) with evidence of a dose-response effect in both studies. Differential associations with Goldmann-correlated IOP (UKB, +0.25 mm Hg; CLSA, +0.36 mm Hg; P < 0.001) and corneal-compensated IOP (UKB, -0.28 mm Hg; CLSA, -0.32 mm Hg; P ≤ 0.001) were observed. Smoking was not associated with inner retinal thicknesses or glaucoma status in either study. MR provided evidence for a causal effect of smoking on corneal biomechanics, especially higher CH. Conclusions: Cigarette smoking seems to increase corneal biomechanical resistance to deformation, but there was little evidence to support a relationship with glaucoma. This outcome may result in an artefactual association with measured IOP and could account for discordant results with glaucoma in previous epidemiological studies.
MeSH term(s)	Female ; Humans ; Male ; Middle Aged ; Biomechanical Phenomena ; Canada/epidemiology ; Cornea/physiology ; Cross-Sectional Studies ; Glaucoma/epidemiology ; Glaucoma/etiology ; Glaucoma, Open-Angle ; Intraocular Pressure ; Longitudinal Studies ; Prospective Studies ; Smoking/adverse effects ; Tonometry, Ocular ; Mendelian Randomization Analysis
Language	English
Publishing date	2024-01-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	391794-0
ISSN	1552-5783 ; 0146-0404
ISSN (online)	1552-5783
ISSN	0146-0404
DOI	10.1167/iovs.65.1.11
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Article ; Online: Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies.

Mishra, Amit V / Vermeirsch, Sandra / Lin, Siying / Martin-Gutierrez, Maria P / Simcoe, Mark / Pontikos, Nikolas / Schiff, Elena / de Guimarães, Thales A C / Hysi, Pirro G / Michaelides, Michel / Arno, Gavin / Webster, Andrew R / Mahroo, Omar A

Investigative ophthalmology & visual science

2024 Volume 65, Issue 5, Page(s) 9

Abstract: Purpose: We sought to explore whether sex imbalances are discernible in several autosomally inherited macular dystrophies.: Methods: We searched the electronic patient records of our large inherited retinal disease cohort, quantifying numbers of ... ...

Abstract	Purpose: We sought to explore whether sex imbalances are discernible in several autosomally inherited macular dystrophies. Methods: We searched the electronic patient records of our large inherited retinal disease cohort, quantifying numbers of males and females with the more common (non-ABCA4) inherited macular dystrophies (associated with BEST1, EFEMP1, PROM1, PRPH2, RP1L1, and TIMP3). BEST1 cases were subdivided into typical autosomal dominant and recessive disease. For PRPH2, only patients with variants at codons 172 or 142 were included. Recessive PROM1 and recessive RP1L1 cases were excluded because these variants give a more widespread or peripheral degeneration. The proportion of females was calculated for each condition; two-tailed binomial testing was performed. Where a significant imbalance was found, previously published cohorts were also explored. Results: Of 325 patients included, numbers for BEST1, EFEMP1, PROM1, PRPH2, RP1L1, and TIMP3 were 152, 35, 30, 50, 14, and 44, respectively. For autosomal dominant Best disease (n = 115), there were fewer females (38%; 95% confidence interval [CI], 29-48%; P = 0.015). For EFEMP1-associated disease (n = 35), there were significantly more females (77%; 95% CI, 60%-90%; P = 0.0019). No significant imbalances were seen for the other genes. When pooling our cohort with previous large dominant Best disease cohorts, the proportion of females was 37% (95% CI, 31%-43%; P = 1.2 × 10-5). Pooling previously published EFEMP1-cases with ours yielded an overall female proportion of 62% (95% CI, 54%-69%; P = 0.0023). Conclusions: This exploratory study found significant sex imbalances in two autosomal macular dystrophies, suggesting that sex could be a modifier. Our findings invite replication in further cohorts and the investigation of potential mechanisms.
MeSH term(s)	Humans ; Female ; Male ; Sex Distribution ; Macular Degeneration/genetics ; Macular Degeneration/diagnosis ; Extracellular Matrix Proteins/genetics ; Eye Proteins/genetics ; Peripherins/genetics ; Tissue Inhibitor of Metalloproteinase-3/genetics
Chemical Substances	Extracellular Matrix Proteins ; Eye Proteins ; Peripherins ; PRPH2 protein, human ; Tissue Inhibitor of Metalloproteinase-3
Language	English
Publishing date	2024-05-03
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	391794-0
ISSN	1552-5783 ; 0146-0404
ISSN (online)	1552-5783
ISSN	0146-0404
DOI	10.1167/iovs.65.5.9
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Article ; Online: Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases.

Simcoe, Mark J / Khawaja, Anthony P / Hysi, Pirro G / Hammond, Christopher J

Human molecular genetics

2020 Volume 29, Issue 18, Page(s) 3154–3164

Abstract: Corneal hysteresis and corneal resistance factor are parameters that reflect the dynamic biomechanical properties of the cornea and have been shown to be biomarkers of corneal disease. In this genome-wide association study of over 100 000 participants, ... ...

Abstract	Corneal hysteresis and corneal resistance factor are parameters that reflect the dynamic biomechanical properties of the cornea and have been shown to be biomarkers of corneal disease. In this genome-wide association study of over 100 000 participants, we identified over 200 genetic loci, all but eight novel, significantly associated with either one or both of these traits. In addition to providing key insights into the genetic architecture underlying normal corneal function, these results identify many candidate loci in the study of corneal diseases that lead to severe visual impairment. Additionally, using Mendelian randomization, we were able to identify causal relationships between corneal biomechanics and intraocular pressure measurements, which help elucidate the relationship between corneal properties and glaucoma.
MeSH term(s)	Adult ; Aged ; Biomechanical Phenomena ; Corneal Diseases/genetics ; Corneal Diseases/pathology ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Glaucoma, Open-Angle/diagnostic imaging ; Glaucoma, Open-Angle/genetics ; Glaucoma, Open-Angle/pathology ; Humans ; Intraocular Pressure/genetics ; Male ; Middle Aged ; R Factors/genetics ; Tonometry, Ocular
Language	English
Publishing date	2020-07-26
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddaa155
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