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Genetics October 2020

SVEP1 as a Genetic Modifier of TEK -Related Primary Congenital Glaucoma

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Terri L. Young; Kristina N. Whisenhunt; Jing Jin; Sarah M. LaMartina; Sean M. Martin; Tomokazu Souma; Vachiranee Limviphuvadh; Fatemeh Suri; Emmanuelle Souzeau; Xue Zhang; Yongwook Dan; Evie Anagnos; Susana Carmona; Nicole M. Jody; Nickie Stangel; Emily C. Higuchi; Samuel J. Huang; Owen M. Siggs; Maria José Simões; Brendan M. Lawson; Jacob S. Martin; Elahe Elahi; Mehrnaz Narooie-Nejad; Behzad Fallahi Motlagh; Susan E. Quaggin; Heather D. Potter; Eduardo D. Silva; Jamie E. Craig; Conceição Egas; Reza Maroofian; Sebastian Maurer-Stroh; Yasmin S. Bradfield; Stuart W. Tompson
TAGS: family, genetics, glaucoma, glaucoma, congenital, mice, pathology, eye, body tissue, alleles, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2020; 61(12):6. doi: https://doi.org/10.1167/iovs.61.12.6

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Normal tension glaucoma is associated with cognitive impairment

Sean Mullany; Lewis Xiao; Ayub Qassim; Mark Hassall; owen siggs; Emmanuelle Souzeau; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):243. doi:

ARVO Annual Meeting Abstract June 2020

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma, and shows a genetic link to Alzheimer’s disease.

Janey Wiggs; Puya Gharahkhani; Eric Jorgenson; Pirro G Hysi; Anthony Khawaja; Sarah Pendergrass; Xikun Han; David Mackey; Christopher Hammond; Michael A Hauser; Louis R Pasquale; Caroline Klaver; Michiaki Kubo; Tin Aung; Jamie E Craig; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1890. doi:

ARVO Annual Meeting Abstract June 2020

Prevalence and Treatment Coverage Rates of Refractive Error among Indigenous Australians.

Jose Javier Estevez; Natasha J Howard; Jamie E Craig; Alex Brown

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4000. doi:

ARVO Annual Meeting Abstract June 2020

A polygenic risk score predicts intraocular pressure fluctuation and readings outside office hours as measured by home tonometry

Ayub Qassim; Mona S Awadalla; Sean Mullany; Mark Hassall; owen siggs; Emmanuelle Souzeau; Thi Nguyen; Henry Marshall; Xikun Han; Angela Schulz; Anna Galanopoulos; Stuart L Graham; Alex W Hewitt; Stuart MacGregor; John Landers; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3491. doi:

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. doi: https://doi.org/10.1167/iovs.18-25570

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Prevalence and Determinants of Vision Impairment in Indigenous Australians: The Predicting Renal, Ophthalmic and Heart Events in the Aboriginal Community (PROPHECY) Study

Jose Javier Estevez; Natasha Howard; John Landers; Jamie E Craig; Alex Brown

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1387. doi:

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. doi:

ARVO Annual Meeting Abstract July 2019

The correlation between Glaucoma polygenic risk score and IOP measured by Icare® HOME tonometry within and outside of office hours.

Mona S Awadalla; Mark Hassall; Ayub Qassim; thi thi nguyen; Xikun Han; Stuart MacGregor; John Landers; Jamie E Craig; David A Mackey; Alex W Hewitt

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2408. doi:

ARVO Annual Meeting Abstract July 2019

CRISPR/Cas-mediated base editing of the AMD high-risk Y402H complement factor H variant

Alex W Hewitt; Peter Tran; Mohd Khairul Nizam Mohd Khalid; Alice Pébay; Anthony L Cook; Helena Liang; Raymond Wong; Jamie E Craig; Guei-Sheung Liu; Sandy Hung

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4947. doi:

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. doi:

ARVO Annual Meeting Abstract July 2019

Glaucoma polygenic risk score predicts treatment intensity and RNFL loss in glaucoma suspects

Ayub Qassim; Mark Hassall; Xikun Han; Henry Nicholas Marshall; Mona S Awadalla; Stuart L Graham; Paul R Healey; Ashish Agar; John Landers; Anna Galanopoulos; Robert James Casson; Alex W Hewitt; Stuart MacGregor; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2832. doi:

Genetics July 2019

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

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Adriana I. Iglesias; Jue Sheng Ong; Anthony P. Khawaja; Puya Gharahkhani; Milly S. Tedja; Virginie J. M. Verhoeven; Pieter W. M. Bonnemaijer; Roger C. W. Wolfs; Terri L. Young; Nomdo M. Jansonius; Jamie E. Craig; Dwight Stambolian; Cornelia M. van Duijn; Stuart MacGregor; Caroline C. W. Klaver; for the International Glaucoma Genetics Consortium (IGGC) and Consortium for Refractive Error and Myopia (CREAM)
TAGS: myopia, open-angle glaucoma, genetics
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):3142-3149. doi: https://doi.org/10.1167/iovs.18-26231

Includes: Supplemental Content

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. doi:

ARVO Annual Meeting Abstract July 2018

The value of Icare HOME tonometry in detecting diurnal variation in IOP and its association with glaucoma progression

Mona S Awadalla; Thi Thi Nguyen; Shahriar Amjadi; John Landers; Jamie E. Craig

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2700. doi:

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. doi:

ARVO Annual Meeting Abstract July 2018

Pigment Dispersion Syndrome and Pigmentary Glaucoma Associated Variants in Premelanosome Protein ( PMEL ) Cause Protein Processing and Fibrillogenesis Defects

Adrian Lahola-Chomiak; Baojian Fan; Tim Footz; David S Greenfield; Robert Ritch; Jamie E. Craig; Janey L Wiggs; Ordan J Lehmann; Michael A Walter

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3020. doi:

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. doi:

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: eye, internet, pediatrics, help-seeking behavior, retinoblastoma
Trans. Vis. Sci. Tech.. 2018; 7(1):18. doi: https://doi.org/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: genes, glaucoma, metabolism, open-angle glaucoma, testosterone, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2018; 59(2):629-636. doi: https://doi.org/10.1167/iovs.17-22708

Includes: Supplemental Content

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SVEP1 as a Genetic Modifier of TEK -Related Primary Congenital Glaucoma

Normal tension glaucoma is associated with cognitive impairment

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma, and shows a genetic link to Alzheimer’s disease.

Prevalence and Treatment Coverage Rates of Refractive Error among Indigenous Australians.

A polygenic risk score predicts intraocular pressure fluctuation and readings outside office hours as measured by home tonometry

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

Prevalence and Determinants of Vision Impairment in Indigenous Australians: The Predicting Renal, Ophthalmic and Heart Events in the Aboriginal Community (PROPHECY) Study

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

The correlation between Glaucoma polygenic risk score and IOP measured by Icare® HOME tonometry within and outside of office hours.

CRISPR/Cas-mediated base editing of the AMD high-risk Y402H complement factor H variant

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

Glaucoma polygenic risk score predicts treatment intensity and RNFL loss in glaucoma suspects

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

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

The value of Icare HOME tonometry in detecting diurnal variation in IOP and its association with glaucoma progression

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

Pigment Dispersion Syndrome and Pigmentary Glaucoma Associated Variants in Premelanosome Protein ( PMEL ) Cause Protein Processing and Fibrillogenesis Defects

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

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

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