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Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology August 2020

Recurrent Rare Copy Number Variants Increase Risk for Esotropia

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Mary C. Whitman; Silvio Alessandro Di Gioia; Wai-Man Chan; Alon Gelber; Brandon M. Pratt; Jessica L. Bell; Thomas E. Collins; James A. Knowles; Christopher Armoskus; Michele Pato; Carlos Pato; Sherin Shaaban; Sandra Staffieri; Sarah MacKinnon; Gail D. E. Maconachie; James E. Elder; Elias I. Traboulsi; Irene Gottlob; David A. Mackey; David G. Hunter; Elizabeth C. Engle; for the Strabismus Genetics Research Consortium
TAGS: copy number polymorphism, esotropia, recurrence
Invest. Ophthalmol. Vis. Sci.. 2020; 61(10):22. doi: https://doi.org/10.1167/iovs.61.10.22

Articles May 2020

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D -Associated Retinal Disorder

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Xiao Liu; Kaoru Fujinami; Kazuki Kuniyoshi; Mineo Kondo; Shinji Ueno; Takaaki Hayashi; Kiyofumi Mochizuki; Shuhei Kameya; Lizhu Yang; Yu Fujinami-Yokokawa; Gavin Arno; Nikolas Pontikos; Hiroyuki Sakuramoto; Taro Kominami; Hiroko Terasaki; Satoshi Katagiri; Kei Mizobuchi; Natsuko Nakamura; Kazutoshi Yoshitake; Yozo Miyake; Shiying Li; Toshihide Kurihara; Kazuo Tsubota; Takeshi Iwata; Kazushige Tsunoda; Japan Eye Genetics Consortium
TAGS: cohort studies, family, genetics, japanese, retinal diseases, phenotype, eye, visual acuity
Trans. Vis. Sci. Tech.. 2020; 9(6):2. doi: https://doi.org/10.1167/tvst.9.6.2

Includes: Supplemental Content

Genetics August 2019

Phenotypical Characteristics of POC1B -Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

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Shuhei Kameya; Kaoru Fujinami; Shinji Ueno; Takaaki Hayashi; Kazuki Kuniyoshi; Ryuichi Ideta; Sachiko Kikuchi; Daiki Kubota; Kazutoshi Yoshitake; Satoshi Katagiri; Hiroyuki Sakuramoto; Taro Kominami; Hiroko Terasaki; Lizhu Yang; Yu Fujinami-Yokokawa; Xiao Liu; Gavin Arno; Nikolas Pontikos; Yozo Miyake; Takeshi Iwata; Kazushige Tsunoda; for the Japan Eye Genetics Consortium
TAGS: cohort studies, cone dystrophy, eye, japanese, ophthalmology, ophthalmoscopy, retinal diseases, universities, spectral domain-optical coherence tomography, mutation
Invest. Ophthalmol. Vis. Sci.. 2019; 60(10):3432-3446. doi: https://doi.org/10.1167/iovs.19-26650

Includes: Supplemental Content

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

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: cohort studies, disease susceptibility, esotropia, genetics, genome-wide association study, parent, single nucleotide polymorphism, meta-analysis, strabismus, genome
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4054-4064. doi: https://doi.org/10.1167/iovs.18-24082

Includes: Supplemental Content

Genetics May 2018

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus

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Bao Jian Fan; Xueli Chen; Nisha Sondhi; P. Ferdinamarie Sharmila; Nagasamy Soumittra; Sarangapani Sripriya; Srinivasan Sacikala; Rashima Asokan; David S. Friedman; Louis R. Pasquale; X. Raymond Gao; Lingam Vijaya; Jessica Cooke Bailey; Veronique Vitart; Stuart MacGregor; Christopher J. Hammond; Chiea Chuen Khor; Jonathan L. Haines; Ronnie George; Janey L. Wiggs; for the Mexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium
TAGS: cohort studies, cornea, family, genetic pedigree, genome-wide association study, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2495-2502. doi: https://doi.org/10.1167/iovs.17-23536

Includes: Supplemental Content

Genetics October 2017

A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma

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Mohsen Ghanbari; Adriana I. Iglesias; Henriët Springelkamp; Cornelia M. van Duijn; M. Arfan Ikram; Abbas Dehghan; Stefan J. Erkeland; Caroline C. W. Klaver; Magda A. Meester-Smoor; for the International Glaucoma Genetics Consortium (IGGC)
TAGS: glaucoma, micrornas, open-angle glaucoma, genetics, endophenotypes
Invest. Ophthalmol. Vis. Sci.. 2017; 58(12):5368-5377. doi: https://doi.org/10.1167/iovs.17-22410

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

TBK1 protein production in fibroblast cell cultures from NTG patients with TBK1 -related glaucoma

Stefania Marsili; Jan Riley; Alan L Robin; John H Fingert; Genetics

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2545. doi:

ARVO Annual Meeting Abstract June 2015

Concomitant presentation of novel mutations in NDP and LRP5 genes in a patient with suspected Norrie and FEVR diseases

Mircea N. Coca; Mohamed Soliman; Emmanuel Chang; Genetics

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2872. doi:

ARVO Annual Meeting Abstract June 2015

Phenotypic characteristics and natural history of choroideremia.

Talal Alabduljalil; Marcela Paz Perez Araya; Heather Trang; Vaishnavi Batmanabe; Chelsea Roadhouse; Elise Heon; Ajoy Vincent; Ophthalmic genetics - SickKids

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3838. doi:

ARVO Annual Meeting Abstract June 2015

Genetic association of polymorphisms in the p53 and LTA genes with proliferative vitreoretinopathy after retinal detachment surgery in Mexican population

Natalia Paulina Quiroz Casian; José Luis Rodríguez; Salvador Lopez-Rubio; Antonio Miranda Duarte; Juan C Zenteno; Genetics

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):404. doi:

ARVO Annual Meeting Abstract June 2015

Identification of a mutation in ASRGL1 as the underlying cause of early-onset recessive Retinal Degeneration (RD).

Pooja Biswas; Venkata R M Chavali; Giulia Agnello; Jacque L Duncan; Muhammad Asif Naeem; Sheikh Riazuddin; James Fielding Hejtmancik; George Georgiou; S Amer Riazuddin; Radha Ayyagari; Genetics

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4348. doi:

ARVO Annual Meeting Abstract June 2015

Hypomorphic mutations in CLUAP1 cause Leber congenital amaurosis

Zachry Soens; Yuanyuan Li; Li Zhao; Yumei Li; Zhaoxia Sun; Ayesha Khan; Norma Fajardo; Irma Lopez; Robert K Koenekoop; Rui Chen; Genetics of Leber congenital amaurosis

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4349. doi:

ARVO Annual Meeting Abstract June 2015

Identification of a novel locus for Exfoliation Syndrome

Mineo Ozaki; Tin Aung; Takanori Mizoguchi; R Rand Allingham; Robert Ritch; Michael A Hauser; Chiea Chuen Khor; XFS genetics consortium

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4380. doi:

ARVO Annual Meeting Abstract June 2015

Genome-wide association study identifies additional novel loci associated with primary angle closure glaucoma

Tin Aung; Chiea Chuen Khor; Monisha Esther Nongpiur; Tan Do; Ningli Wang; Eranga Nishanthie Vithana; Angle Closure Glaucoma Genetics Consortium

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4383. doi:

ARVO Annual Meeting Abstract June 2015

Gene by gene interaction analyses identifies evidence of epistasis and new candidate genes that influence intraocular pressure in the general population

Pirro G Hysi; Adriana I Iglesias; Stuart MacGregor; David A Mackey; Rene Hoehn; Ching-Yu Cheng; Tien Yin Wong; Janey L Wiggs; Christopher J Hammond; Cornelia M van Duijn; International Glaucoma Genetics Consortium

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5817. doi:

ARVO Annual Meeting Abstract June 2015

Exome sequencing in Nasopalpebral-Lipoma-Coloboma Syndrome identifies a pathogenic mutation in an imprinted locus

Oscar Francisco Chacon-Camacho; RAUL EDUARDO PIÑA-AGUILAR; Angel Nava-Castaneda; Juan Carlos Zenteno; GENETICS

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5987. 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

The role of lipoprotein cholesterol in age-related macular degeneration: an instrumental variable approach using multiple genetic variants

Qiao Fan; Gemmy Cheung; Chiea Chuen Khor; E Shyong Tai; Chi Pui Pang; Kyu Hyung Park; Nagahisa Yoshimura; Tien Yin Wong; Ching-Yu Cheng; Genetics of AMD in Asians (GAMA) Consortium

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):790. doi:

Genetics May 2015

Mouse Slc9a8 Mutants Exhibit Retinal Defects Due to Retinal Pigmented Epithelium Dysfunction

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Shalini Jadeja; Alun R. Barnard; Lisa McKie; Sally H. Cross; Jacqueline K. White; on behalf of the Sanger Mouse Genetics Project; Morag Robertson; Peter S. Budd; Robert E. MacLaren; Ian J. Jackson
TAGS: mice
Invest. Ophthalmol. Vis. Sci.. 2015; 56(5):3015-3026. doi: https://doi.org/10.1167/iovs.14-15735

Includes: Supplemental Content

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Recurrent Rare Copy Number Variants Increase Risk for Esotropia

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D -Associated Retinal Disorder

Phenotypical Characteristics of POC1B -Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

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

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

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus

A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma

TBK1 protein production in fibroblast cell cultures from NTG patients with TBK1 -related glaucoma

Concomitant presentation of novel mutations in NDP and LRP5 genes in a patient with suspected Norrie and FEVR diseases

Phenotypic characteristics and natural history of choroideremia.

Genetic association of polymorphisms in the p53 and LTA genes with proliferative vitreoretinopathy after retinal detachment surgery in Mexican population

Identification of a mutation in ASRGL1 as the underlying cause of early-onset recessive Retinal Degeneration (RD).

Hypomorphic mutations in CLUAP1 cause Leber congenital amaurosis

Identification of a novel locus for Exfoliation Syndrome

Genome-wide association study identifies additional novel loci associated with primary angle closure glaucoma

Gene by gene interaction analyses identifies evidence of epistasis and new candidate genes that influence intraocular pressure in the general population

Exome sequencing in Nasopalpebral-Lipoma-Coloboma Syndrome identifies a pathogenic mutation in an imprinted locus

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

The role of lipoprotein cholesterol in age-related macular degeneration: an instrumental variable approach using multiple genetic variants

Mouse Slc9a8 Mutants Exhibit Retinal Defects Due to Retinal Pigmented Epithelium Dysfunction

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