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Special Issue February 2019

IMI – Myopia Genetics Report

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Milly S. Tedja; Annechien E. G. Haarman; Magda A. Meester-Smoor; Jaakko Kaprio; David A. Mackey; Jeremy A. Guggenheim; Christopher J. Hammond; Virginie J. M. Verhoeven; Caroline C. W. Klaver; for the CREAM Consortium
TAGS: genes, myopia, refractive errors, genetics, genome-wide association study, universities
Invest. Ophthalmol. Vis. Sci.. 2019; 60(3):M89-M105. doi: 10.1167/iovs.18-25965

Articles January 2019

Low 25-Hydroxyvitamin D Concentration Is Not Associated With Refractive Error in Middle-Aged and Older Western Australian Adults

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Gareth Lingham; Seyhan Yazar; Robyn M. Lucas; John P. Walsh; Kun Zhu; Michael Hunter; Ee Mun Lim; Brian R. Cooke; David A. Mackey
TAGS: adult, mass or substance concentration per volume, myopia, refractive errors, middle-aged adult, 25-hydroxyvitamin d
Trans. Vis. Sci. Tech.. 2019; 8(1):13. doi: 10.1167/tvst.8.1.13

Includes: Supplemental Content

Glaucoma September 2018

Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma

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Larry N. Singh; Jonathan G. Crowston; M. Isabel G. Lopez Sanchez; Nicole J. Van Bergen; Lisa S. Kearns; Alex W. Hewitt; Seyhan Yazar; David A. Mackey; Douglas C. Wallace; Ian A. Trounce
TAGS: glaucoma, disease susceptibility, open-angle glaucoma, dna, mitochondrial
Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4598-4602. doi: 10.1167/iovs.18-25085

Includes: Supplemental Content

Genetics August 2018

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

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Sherin Shaaban; Sarah MacKinnon; Caroline Andrews; Sandra E. Staffieri; Gail D. E. Maconachie; Wai-Man Chan; Mary C. Whitman; Sarah U. Morton; Seyhan Yazar; Stuart MacGregor; James E. Elder; Elias I. Traboulsi; Irene Gottlob; Alex W. Hewitt; Strabismus Genetics Research Consortium; David G. Hunter; David A. Mackey; Elizabeth C. Engle
TAGS: meta-analysis, esotropia, cohort studies, disease susceptibility, genome, parent, single nucleotide polymorphism, strabismus, genetics, genome-wide association study
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4054-4064. doi: 10.1167/iovs.18-24082

Includes: Supplemental Content

Articles February 2018

Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign

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Sandra E. Staffieri; Lisa S. Kearns; Paul G. Sanfilippo; Jamie E. Craig; David A. Mackey; Alex W. Hewitt
TAGS: internet, pediatrics, retinoblastoma, eye, help-seeking behavior
Trans. Vis. Sci. Tech.. 2018; 7(1):18. doi: 10.1167/tvst.7.1.18

Includes: Supplemental Content

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: testosterone, metabolism, polymorphism, glaucoma, genes, open-angle glaucoma, datasets
Invest. Ophthalmol. Vis. Sci.. 2018; 59(2):629-636. doi: 10.1167/iovs.17-22708

Includes: Supplemental Content

Articles January 2018

Intrasession Repeatability and Interocular Symmetry of Foveal Avascular Zone and Retinal Vessel Density in OCT Angiography

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Fred K. Chen; Moreno Menghini; Alex Hansen; David A. Mackey; Ian J. Constable; Danuta M. Sampson
TAGS: angiogram, retinal vessels, eye, angiosarcoma associated with lymphedema, lung allocation score, ligamentous articular strain technique
Trans. Vis. Sci. Tech.. 2018; 7(1):6. doi: 10.1167/tvst.7.1.6

Includes: Supplemental Content

Articles December 2017

Intersession Test–Retest Variability of Microperimetry in Type 2 Macular Telangiectasia

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Evan N. Wong; Jehan D. A. De Soyza; David A. Mackey; Ian J. Constable; Fred K. Chen
TAGS: scotoma, telangiectasis, eye
Trans. Vis. Sci. Tech.. 2017; 6(6):7. doi: 10.1167/tvst.6.6.7

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Post-GWAS analysis approaches uncover dozens of novel genes associated with myopic refractive error

Stuart MacGregor; Milly S. Tedja; Robert Wojciechowski; Pirro G Hysi; Virginie JM Verhoeven; Christopher J Hammond; Adriana I Iglesias; David A Mackey; Cornelia van Duijn; Caroline Klaver

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1226. doi:

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. doi:

ARVO Annual Meeting Abstract June 2017

Autosomal dominant locus for pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma identified on chromosome 7q36

Stuart W Tompson; Kristina N Whisenhunt; Alex W Hewitt; David A Mackey; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2787. doi:

Retina June 2017

Axial Length Variation Impacts on Superficial Retinal Vessel Density and Foveal Avascular Zone Area Measurements Using Optical Coherence Tomography Angiography

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Danuta M. Sampson; Peijun Gong; Di An; Moreno Menghini; Alex Hansen; David A. Mackey; David D. Sampson; Fred K. Chen

Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):3065-3072. doi: 10.1167/iovs.17-21551

Genetics March 2017

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

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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: mutation, glaucoma, cohort studies, genes, open-angle glaucoma
Invest. Ophthalmol. Vis. Sci.. 2017; 58(3):1537-1544. doi: 10.1167/iovs.16-21049

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Whole exome sequencing in advanced POAG cases of GWAS associated candidate genes identifies significant enrichment of rare variants in CARD10.

Jamie E Craig; Tiger Zhou; Kathryn P Burdon; Alex W Hewitt; David A Mackey; Matt A Brown; Paul Leo; Paul R Healey; Stuart L Graham; Ttuart Macgregor

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):818. doi:

Genetics June 2016

Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma

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Soo Khai Ng; Kathryn P. Burdon; Jude T. Fitzgerald; Tiger Zhou; Rhys Fogarty; Emmanuelle Souzeau; John Landers; Richard A. Mills; Robert J. Casson; Bronwyn Ridge; Stuart L. Graham; Alex W. Hewitt; David A. Mackey; Paul R. Healey; Jie Jin Wang; Paul Mitchell; Stuart MacGregor; Jamie E. Craig
TAGS: glaucoma, open-angle glaucoma, single nucleotide polymorphism, genetics, glaucoma, normal-tension, sexism, 9p21 nucleotide sequence
Invest. Ophthalmol. Vis. Sci.. 2016; 57(7):3416-3421. doi: 10.1167/iovs.16-19401

Includes: Supplemental Content

Perspective February 2016

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

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Emmanuelle Souzeau; Kathryn P. Burdon; David A. Mackey; Alex W. Hewitt; Ravi Savarirayan; Margaret Otlowski; Jamie E. Craig
TAGS: ethics, disclosure, genome, research personnel, eye, genetics, incidental findings, whole exome sequencing
Trans. Vis. Sci. Tech.. 2016; 5(1):3. doi: 10.1167/tvst.5.1.3

Genetics August 2015

Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma

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Puya Gharahkhani; Kathryn P. Burdon; Alex W. Hewitt; Matthew H. Law; Emmanuelle Souzeau; Grant W. Montgomery; Graham Radford-Smith; David A. Mackey; Jamie E. Craig; Stuart MacGregor
TAGS: open-angle glaucoma, single nucleotide polymorphism, screening, genotype determination, myoc gene
Invest. Ophthalmol. Vis. Sci.. 2015; 56(9):5087-5093. doi: 10.1167/iovs.15-17305

ARVO Annual Meeting Abstract June 2015

Investigation of common genetic variants implicated in rhegmatogenous retinal detachment.

Alex W Hewitt; Timothy Johnston; Penelope Jayne Allen; Jamie E Craig; David A Mackey; Jie Jin Wang; Paul Mitchell; Aman Chandra

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1256. doi:

ARVO Annual Meeting Abstract June 2015

Consumer-product related ocular and periocular trauma in Western Australian children

Annette K Hoskin; Anne-Marie E Yardley; Kate Hanman; Geoffrey Lam; David A Mackey; Genetics and Epidemiology

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):6052. doi:

ARVO Annual Meeting Abstract June 2015

Multimodal imaging in Rubella Retinopathy

Danuta M Bukowska; Sue Ling Wan; David A Mackey; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):606. doi:

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IMI – Myopia Genetics Report

Low 25-Hydroxyvitamin D Concentration Is Not Associated With Refractive Error in Middle-Aged and Older Western Australian Adults

Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign

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

Intrasession Repeatability and Interocular Symmetry of Foveal Avascular Zone and Retinal Vessel Density in OCT Angiography

Intersession Test–Retest Variability of Microperimetry in Type 2 Macular Telangiectasia

Post-GWAS analysis approaches uncover dozens of novel genes associated with myopic refractive error

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

Autosomal dominant locus for pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma identified on chromosome 7q36

Axial Length Variation Impacts on Superficial Retinal Vessel Density and Foveal Avascular Zone Area Measurements Using Optical Coherence Tomography Angiography

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

Whole exome sequencing in advanced POAG cases of GWAS associated candidate genes identifies significant enrichment of rare variants in CARD10.

Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma

Investigation of common genetic variants implicated in rhegmatogenous retinal detachment.

Consumer-product related ocular and periocular trauma in Western Australian children

Multimodal imaging in Rubella Retinopathy

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