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Retina March 2025

Genome-Wide Association Study to Identify Genetic Variants Associated With Diabetic Maculopathy

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Rajya L. Gurung; Charvi Nangia; Tengda Cai; Liesel M. FitzGerald; Bennet J. McComish; Ebony Liu; Georgia Kaidonis; Bronwyn Ridge; Alex W. Hewitt; Brendan Vote; Nitin Verma; Jamie E. Craig; Colin N. A. Palmer; Kathryn P. Burdon; Weihua Meng
TAGS: cohort studies, diabetes mellitus, genetics, genome-wide association study, macular disorders, meta-analysis, single nucleotide polymorphism, genotype determination, diabetes mellitus, type 2
Invest. Ophthalmol. Vis. Sci.. 2025; 66(3):55. https://doi.org/10.1167/iovs.66.3.55

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

High glaucoma polygenic risk is strongly associated with development of glaucoma in patients with pseudoexfoliation syndrome

Antonia Kolovos; Ayub Qassim; Mark Hassall; Weixiong He; Henry Marshall; Stuart L Graham; Robert James Casson; Richard A Mills; Stewart Lake; Alex W Hewitt; Kathryn Burdon; Joshua Schmidt; Stuart MacGregor; Emmanuelle Souzeau; Owen Siggs; Jamie Craig

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4058.

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 2022

Genetic biomarkers predicting response to anti-vascular endothelial growth factor injections in diabetic macular edema, a pilot study

Rajya L gurung; Liesel M FitzGerald; Bennet J McComish; ebony lui; Jamie E Craig; Nitin Verma; Alex W Hewitt; Brendan JT Vote; Kathryn P Burdon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3852.

Lens September 2021

Genotype, Age, Genetic Background, and Sex Influence Epha2 -Related Cataract Development in Mice

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Alpana Dave; Jamie E. Craig; Mohammad Alamein; Karina Skrzypiec; Justin Beltz; Annalise Pfaff; Kathryn P. Burdon; Nuran Ercal; Robb U. de Iongh; Shiwani Sharma
TAGS: cataract, genetic background, genotype, mice, lens (device), lens, crystalline
Invest. Ophthalmol. Vis. Sci.. 2021; 62(12):3. https://doi.org/10.1167/iovs.62.12.3

Includes: Supplemental Content

Cornea March 2021

Innate and Adaptive Gene Single Nucleotide Polymorphisms Associated With Susceptibility of Severe Inflammatory Complications in Acanthamoeba Keratitis

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Nicole A. Carnt; Ignatius Pang; Kathryn P. Burdon; Virginia Calder; John K. Dart; Dinesh Subedi; Alison J. Hardcastle
TAGS: acanthamoeba keratitis, disease susceptibility, genes, genetics, inflammation, single nucleotide polymorphism, interleukin-8
Invest. Ophthalmol. Vis. Sci.. 2021; 62(3):33. https://doi.org/10.1167/iovs.62.3.33

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Gene set enrichment analysis implicates vascular endothelial growth factor pathway in genetic risk of developing proliferative diabetic retinopathy

Gayatri Susarla; Richard Jensen; Albert V. Smith; Mary Frances Cotch; Brian Yaspan; Donald Bowden; Ronald Klein; Barbara Klein; Tien Y. Wong; Jie Jin Wang; Kathryn P Burdon; Xiaohui Li; Sudha K Iyengar; Lucia Sobrin; Ayellet Segrè

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1900.

ARVO Annual Meeting Abstract June 2020

The association of Interleukin 8 gene SNP with severe inflammatory complications in contact lens wearers experiencing Acanthamoeba Keratitis.

Nicole Ann Carnt; Ignatius Pang; Kathryn P Burdon; Virginia L Calder; John Dart; Dinesh Subedi; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3998.

Genetics September 2019

MicroRNA-Related Genetic Variants Are Associated With Diabetic Retinopathy in Type 1 Diabetes Mellitus

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Ebony Liu; Georgia Kaidonis; Bennet J. McComish; Mark C. Gillies; Sotoodeh Abhary; Rohan W. Essex; John H. Chang; Bishwanath Pal; Mark Daniell; Stewart Lake; Nikolai Petrovsky; Alex W. Hewitt; Alicia Jenkins; Ecosse L. Lamoureux; Jonathan M. Gleadle; Jamie E. Craig; Kathryn P. Burdon
TAGS: diabetes mellitus, type 1, diabetic retinopathy, genes, genetics, micrornas, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2019; 60(12):3937-3942. https://doi.org/10.1167/iovs.18-25570

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

A glaucoma polygenic risk score strongly associated with disease prediction and treatment intensity.

Jamie E Craig; Ayub Qassim; Xikun Han; Mark Hassall; Robert James Casson; Stuart L Graham; David A Mackey; Colin Willoughby; Kathryn P Burdon; John Landers; Emmanuelle Souzeau; Janey L Wiggs; Alex W Hewitt; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1619.

ARVO Annual Meeting Abstract July 2019

Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

Alison J Hardcastle; Pirro G Hysi; Karla Rojas-Lopez; Petra Liskova; Alice E Davidson; Manir Ali; Kathryn P Burdon; David O'Brart; Chris Inglehearn; Paul N Baird; Christopher J Hammond; Stephen J Tuft

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4249.

ARVO Annual Meeting Abstract July 2019

Peripapillary RNFL loss precedes Macular GCIPL loss in glaucoma with lower intraocular pressure.

Henry Nicholas Marshall; Nicholas H Andrew; Emmanuelle Souzeau; Bronwyn Ridge; Jude Fitzgerald; Mona Awadalla; Kathryn P Burdon; Paul Healey; Ashish Agar; Anna Galanopoulos; Alex W Hewitt; Stuart Graham; John Landers; Robert James Casson; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3921.

ARVO Annual Meeting Abstract July 2018

119 loci influencing intraocular pressure provide new insight into primary open angle glaucoma susceptibility and age of onset.

Jamie E. Craig; Alex W. Hewitt; David Mackey; Stuart L Graham; Paul R Healey; Andrew JR White; John Landers; Robert Casson; Emmanuelle Souzeau; Kathryn P Burdon; Puya Gharahkhani; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1177.

ARVO Annual Meeting Abstract July 2018

Genetic variants in microRNA genes and microRNA binding sites associated with diabetic retinopathy

Ebony Liu; Georgia Kaidonis; Bennet McComish; Mark C Gillies; Sotoodeh Abhary; Mark Daniell; Nikolai Petrovsky; Jonathan Gleadle; Jamie E. Craig; Kathryn P Burdon

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3017.

ARVO Annual Meeting Abstract July 2018

A genome-wide association study for keratoconus identifies novel risk loci

Kathryn P Burdon; Bennet McComish; Paul N. Baird; Yelena Bykhovskaya; Andrea Richardson-Wynd; Colin E Willoughby; Xiaohui Li; Srujana Sahebjada; Stuart MacGregor; Sionne Lucas; Jerome I Rotter; Richard A Mills; Alex W. Hewitt; Yaron Rabinowitz; Jamie E. Craig

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4470.

Glaucoma February 2018

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

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Jessica N. Cooke Bailey; Puya Gharahkhani; Jae H. Kang; Mariusz Butkiewicz; David A. Sullivan; Robert N. Weinreb; Hugues Aschard; R. Rand Allingham; Allison Ashley-Koch; Richard K. Lee; Sayoko E. Moroi; Murray H. Brilliant; Gadi Wollstein; Joel S. Schuman; John H. Fingert; Donald L. Budenz; Tony Realini; Terry Gaasterland; William K. Scott; Kuldev Singh; Arthur J. Sit; Robert P. Igo, Jr; Yeunjoo E. Song; Lisa Hark; Robert Ritch; Douglas J. Rhee; Douglas Vollrath; Donald J. Zack; Felipe Medeiros; Thasarat S. Vajaranant; Daniel I. Chasman; William G. Christen; Margaret A. Pericak-Vance; Yutao Liu; Peter Kraft; Julia E. Richards; Bernard A. Rosner; Michael A. Hauser; Jamie E. Craig; Kathryn P. Burdon; Alex W. Hewitt; David A. Mackey; Jonathan L. Haines; Stuart MacGregor; Janey L. Wiggs; Louis R. Pasquale; for the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium
TAGS: genes, glaucoma, metabolism, open-angle glaucoma, testosterone, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2018; 59(2):629-636. https://doi.org/10.1167/iovs.17-22708

Includes: Supplemental Content

Genetics December 2017

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent

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Sionne E. M. Lucas; Tiger Zhou; Nicholas B. Blackburn; Richard A. Mills; Jonathan Ellis; Paul Leo; Emmanuelle Souzeau; Bronwyn Ridge; Jac C. Charlesworth; Matthew A. Brown; Richard Lindsay; Jamie E. Craig; Kathryn P. Burdon
TAGS: cohort studies, keratoconus, genes
Invest. Ophthalmol. Vis. Sci.. 2017; 58(14):6248-6256. https://doi.org/10.1167/iovs.17-22417

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Predictors of response to intravitreal bevacizumab for the treatment of diabetic macula edema; preliminary results of a retrospective case series

Ebony Liu; Georgia Kaidonis; Stewart Lake; Kathryn P Burdon; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1901.

ARVO Annual Meeting Abstract June 2017

Discovery of novel loci for primary open angle glaucoma using combined extreme extreme phenotype and QTL approaches.

Jamie E Craig; Puya Gharahkhani; Alex W Hewitt; Kathryn P Burdon; David A Mackey; Stuart L Graham; Paul R Healey; Tiger Zhou; Owen Siggs; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2135.

Genetics March 2017

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

PDF

Tiger Zhou; Emmanuelle Souzeau; Owen M. Siggs; John Landers; Richard Mills; Ivan Goldberg; Paul R. Healey; Stuart Graham; Alex W. Hewitt; David A. Mackey; Anna Galanopoulos; Robert J. Casson; Jonathan B. Ruddle; Jonathan Ellis; Paul Leo; Matthew A. Brown; Stuart MacGregor; Shiwani Sharma; Kathryn P. Burdon; Jamie E. Craig
TAGS: genes, glaucoma, open-angle glaucoma, mutation, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(3):1537-1544. https://doi.org/10.1167/iovs.16-21049

Includes: Supplemental Content

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Genome-Wide Association Study to Identify Genetic Variants Associated With Diabetic Maculopathy

High glaucoma polygenic risk is strongly associated with development of glaucoma in patients with pseudoexfoliation syndrome

Mendelian Randomization analyses identify environmental factors that influence keratoconus risk

Genetic biomarkers predicting response to anti-vascular endothelial growth factor injections in diabetic macular edema, a pilot study

Genotype, Age, Genetic Background, and Sex Influence Epha2 -Related Cataract Development in Mice

Innate and Adaptive Gene Single Nucleotide Polymorphisms Associated With Susceptibility of Severe Inflammatory Complications in Acanthamoeba Keratitis

Gene set enrichment analysis implicates vascular endothelial growth factor pathway in genetic risk of developing proliferative diabetic retinopathy

The association of Interleukin 8 gene SNP with severe inflammatory complications in contact lens wearers experiencing Acanthamoeba Keratitis.

MicroRNA-Related Genetic Variants Are Associated With Diabetic Retinopathy in Type 1 Diabetes Mellitus

A glaucoma polygenic risk score strongly associated with disease prediction and treatment intensity.

Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

Peripapillary RNFL loss precedes Macular GCIPL loss in glaucoma with lower intraocular pressure.

119 loci influencing intraocular pressure provide new insight into primary open angle glaucoma susceptibility and age of onset.

Genetic variants in microRNA genes and microRNA binding sites associated with diabetic retinopathy

A genome-wide association study for keratoconus identifies novel risk loci

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent

Predictors of response to intravitreal bevacizumab for the treatment of diabetic macula edema; preliminary results of a retrospective case series

Discovery of novel loci for primary open angle glaucoma using combined extreme extreme phenotype and QTL approaches.

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

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