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Genetics March 2025

An Ocular Gene-Set Expression Library for Heritability Partition and Cell Line Enrichment Analyses

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Pirro G. Hysi; Christopher J. Hammond
TAGS: cell lines, genes, genome-wide association study, libraries
Invest. Ophthalmol. Vis. Sci.. 2025; 66(3):11. https://doi.org/10.1167/iovs.66.3.11

Includes: Supplemental Content

Retina February 2025

Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A -Associated Retinopathy

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Gilad Allon; Siying Lin; Anthony G. Robson; Gavin Arno; Magella M. Neveu; Pirro G. Hysi; Michel Michaelides; Andrew R. Webster; Omar A. Mahroo
TAGS: cohort studies, diagnostic imaging, genetics, retinal diseases, visual acuity, electrophysiology, family, eye, vision
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):50. https://doi.org/10.1167/iovs.66.2.50

Visual Neuroscience November 2024

The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism

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Zihe Xu; Jit Kai Tan; Krishnika Vetrivel; Xiaofan Jiang; Shaun M. Leo; Taha Bhatti; Ambreen Tariq; Andrew R. Webster; Anthony G. Robson; Christopher J. Hammond; Pirro G. Hysi; Omar A. Mahroo
TAGS: electroretinography, genetic risk, myopia, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2024; 65(13):21. https://doi.org/10.1167/iovs.65.13.21

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Cross-ancestry genome-wide association study for intraocular pressure in 263,134 individuals provides novel insights into glaucoma pathogenesis

Anthony P Khawaja; Mahantesh I Biradar; Kelsey V Stuart; Robert Luben; Zihan Sun; Timing Liu; Zihe Xu; Alasdair N Warwick; Richie Hu; Peng Tee Khaw; Paul Foster; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1011.

ARVO Annual Meeting Abstract June 2024

Epigenetic modifiers and their interactions with genetic polymorphisms in Intraocular Pressure and glaucoma

Xiaofan Jiang; Omar Abdul Rahman Mahroo; Dorota Skowronska-Krawczyk; Christopher J Hammond; Chris G Bell; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4626.

ARVO Annual Meeting Abstract June 2024

Protein coding variant analysis suggests contributions of protein disrupting variants to primary open angle glaucoma

Shi Song Rong; Pirro G Hysi; Mauricio De Jesus Garcia; Ayellet Segre; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4243.

ARVO Annual Meeting Abstract June 2024

Modelling the rod-driven electroretinogram a-wave elicited by strong flashes: insights from patients with selected post-phototransduction impairments

Omar Abdul Rahman Mahroo; Xiaofan Jiang; Shaun Leo; Pirro G Hysi; Thales A C De Guimarães; Anthony G Robson; Christopher J Hammond; Michel Michaelides; Andrew Webster; John Robson

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5854.

ARVO Annual Meeting Abstract June 2024

Metabolome-wide analysis identifies two plasma metabolites associated with age-related macular degeneration

Ajda Pristavec; Zakariya Jarrar; Pirro G Hysi; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6513.

ARVO Annual Meeting Abstract June 2024

A metabolome-wide analysis of Intraocular pressure suggests neuroinflammatory mechanisms as possible mechanisms involved in glaucoma

Pirro G Hysi; Ajda Pristavec; Anthony P Khawaja; Jospeh Bastasic; David A Mackey; Janey L Wiggs; Jamie E Craig; Louis R Pasquale; Christopher J Hammond; Marie-Hélène Roy-Gagnon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):997.

Retina May 2024

Sex Distributions in Non- ABCA4 Autosomal Macular Dystrophies

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Amit V. Mishra; Sandra Vermeirsch; Siying Lin; Maria P. Martin-Gutierrez; Mark Simcoe; Nikolas Pontikos; Elena Schiff; Thales A. C. de Guimarães; Pirro G. Hysi; Michel Michaelides; Gavin Arno; Andrew R. Webster; Omar A. Mahroo
TAGS: abca4 gene, cohort studies, macular dystrophy, sex distribution
Invest. Ophthalmol. Vis. Sci.. 2024; 65(5):9. https://doi.org/10.1167/iovs.65.5.9

Retina February 2024

Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability

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Zakariya A. Jarrar; Khaldoon O. Al-Nosairy; Xiaofan Jiang; Ali Lamin; Dominic Wong; Abdus S. Ansari; Katie M. Williams; Sobha Sivaprasad; Michael B. Hoffmann; Pirro G. Hysi; Christopher J. Hammond; Omar A. Mahroo
TAGS: adult, cohort studies, ganglia, nose, twins
Invest. Ophthalmol. Vis. Sci.. 2024; 65(2):26. https://doi.org/10.1167/iovs.65.2.26

Clinical and Epidemiologic Research January 2024

Smoking, Corneal Biomechanics, and Glaucoma: Results From Two Large Population-Based Cohorts

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Kelsey V. Stuart; Kian M. Madjedi; Robert N. Luben; Mahantesh I. Biradar; Siegfried K. Wagner; Alasdair N. Warwick; Zihan Sun; Pirro G. Hysi; Mark J. Simcoe; Paul J. Foster; Anthony P. Khawaja; on behalf of the Modifiable Risk Factors for Glaucoma Collaboration and the UK Biobank Eye and Vision Consortium
TAGS: biomechanics, cohort studies, cornea, glaucoma, smoking, intraocular pressure
Invest. Ophthalmol. Vis. Sci.. 2024; 65(1):11. https://doi.org/10.1167/iovs.65.1.11

Includes: Supplemental Content

Clinical and Epidemiologic Research November 2023

Changes in Refractive Error During Young Adulthood: The Effects of Longitudinal Screen Time, Ocular Sun Exposure, and Genetic Predisposition

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Samantha Sze-Yee Lee; Gareth Lingham; Carol A. Wang; Santiago Diaz Torres; Craig E. Pennell; Pirro G. Hysi; Christopher J. Hammond; Puya Gharahkhani; Rosie Clark; Jeremy A. Guggenheim; David A. Mackey
TAGS: adult, genetic predisposition to disease, myopia, refractive errors, screen time, sun exposure
Invest. Ophthalmol. Vis. Sci.. 2023; 64(14):28. https://doi.org/10.1167/iovs.64.14.28

Includes: Supplemental Content

Genetics July 2023

Association of Behavioral and Clinical Risk Factors With Cataract: A Two-Sample Mendelian Randomization Study

PDF

Chen Jiang; Ronald B. Melles; Poorab Sangani; Thomas J. Hoffmann; Pirro G. Hysi; M. Maria Glymour; Eric Jorgenson; Salil A. Lachke; Hélène Choquet
TAGS: cataract, genetics, risk factors, open-angle glaucoma, mendelian randomization analysis
Invest. Ophthalmol. Vis. Sci.. 2023; 64(10):19. https://doi.org/10.1167/iovs.64.10.19

Includes: Supplemental Content

Clinical and Epidemiologic Research July 2023

Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study

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Zakariya A. Jarrar; Abdus Samad Ansari; Katie M. Williams; Dominic S. Wong; Pirro G. Hysi; Omar A. Mahroo; Christopher J. Hammond
TAGS: prevalence, spectral domain-optical coherence tomography, twin studies
Invest. Ophthalmol. Vis. Sci.. 2023; 64(10):9. https://doi.org/10.1167/iovs.64.10.9

Includes: Supplemental Content

Retina June 2023

An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank

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Mark J. Simcoe; Gavin Arno; Pirro G. Hysi; Tony Ko; Michel Michaelides; Christopher J. Hammond; Praveen J. Patel; Omar A. Mahroo; Andrew R. Webster; for the UK Biobank Eye and Vision Consortium*
TAGS: abca4 gene, biobanks, genotype, mutation, retina, retinal diseases, alleles, cohort studies, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2023; 64(7):31. https://doi.org/10.1167/iovs.64.7.31

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Comparison of multiple polygenic risk score derivation approaches for population-level prediction of primary open-angle glaucoma

Mahantesh Biradar; Robert Luben; Kelsey Stuart; Alasdair Warwick; Zihan Sun; Mark Chia; Paul Foster; Pirro G Hysi; Anthony Khawaja

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):492.

ARVO Annual Meeting Abstract June 2023

Prevalence, concordance, and heritability of posterior vitreous detachment (PVD) in a twin population

Dominic Shou Huang Wong; Zakariya Jarrar; Abdus Samad Ansari; Katie Williams; Pirro G Hysi; Omar Abdul Rahman Mahroo; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):540.

ARVO Annual Meeting Abstract June 2023

Mendelian Randomization analyses identify environmental factors that influence keratoconus risk

Pirro G Hysi; Alice E Davidson; Petra Liskova; Paul N Baird; Kathryn P Burdon; Christopher J Hammond; Alison J Hardcastle; Stephen J Tuft

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1178.

ARVO Annual Meeting Abstract June 2023

A genome wide association study of electroretinogram oscillatory potentials

ZIHE XU; Xiaofan Jiang; Alex M Tanner; Talha Soorma; Christopher J Hammond; Omar Abdul Rahman Mahroo; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1663.

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An Ocular Gene-Set Expression Library for Heritability Partition and Cell Line Enrichment Analyses

Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A -Associated Retinopathy

The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism

Cross-ancestry genome-wide association study for intraocular pressure in 263,134 individuals provides novel insights into glaucoma pathogenesis

Epigenetic modifiers and their interactions with genetic polymorphisms in Intraocular Pressure and glaucoma

Protein coding variant analysis suggests contributions of protein disrupting variants to primary open angle glaucoma

Modelling the rod-driven electroretinogram a-wave elicited by strong flashes: insights from patients with selected post-phototransduction impairments

Metabolome-wide analysis identifies two plasma metabolites associated with age-related macular degeneration

A metabolome-wide analysis of Intraocular pressure suggests neuroinflammatory mechanisms as possible mechanisms involved in glaucoma

Sex Distributions in Non- ABCA4 Autosomal Macular Dystrophies

Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability

Smoking, Corneal Biomechanics, and Glaucoma: Results From Two Large Population-Based Cohorts

Changes in Refractive Error During Young Adulthood: The Effects of Longitudinal Screen Time, Ocular Sun Exposure, and Genetic Predisposition

Association of Behavioral and Clinical Risk Factors With Cataract: A Two-Sample Mendelian Randomization Study

Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study

An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank

Comparison of multiple polygenic risk score derivation approaches for population-level prediction of primary open-angle glaucoma

Prevalence, concordance, and heritability of posterior vitreous detachment (PVD) in a twin population

Mendelian Randomization analyses identify environmental factors that influence keratoconus risk

A genome wide association study of electroretinogram oscillatory potentials

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