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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

ARVO Annual Meeting Abstract July 2019

Rare Copy Number Variants Increase Risk for Esotropia

Mary Whitman; Silvio Alessandro Di Gioia; Wai-Man Chan; Alon Gelber; Sherin Shaaban; Sandra Staffieri; Sarah MacKinnon; David A Mackey; David G Hunter; Elizabeth Engle

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1769. doi:

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

ARVO Annual Meeting Abstract July 2018

Optic Nerve Head Abnormalities Associated with Congenital Fibrosis of Extraocular Muscles

Mervyn George Thomas; Gail Maconachie; Wai-Man Chan; Viral Sheth; Rebecca McLean; Ravi Purohit; Michael Hisaund; Brenda Barrry; Frank A Proudlock; Elizabeth Engle; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2173. doi:

ARVO Annual Meeting Abstract April 2014

High Resolution in-vivo Imaging in Patients with PAX6 Mutations

Mervyn George Thomas; Viral Sheth; Wai-Man Chan; Caroline Andrews; Elizabeth C Engle; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6413. doi:

ARVO Annual Meeting Abstract June 2013

Genotype-retinal phenotype correlations in infantile nystagmus

Mervyn Thomas; Viral Sheth; Rebecca McLean; Frank Proudlock; Gail Maconachie; Susanne Kohl; Wai-Man Chan; Caroline Andrews; Elizabeth Engle; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):4572. doi:

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology August 2011

Expansion of the CHN1 Strabismus Phenotype

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Noriko Miyake; Joseph L. Demer; Sherin Shaaban; Caroline Andrews; Wai-Man Chan; Stephen P. Christiansen; David G. Hunter; Elizabeth C. Engle
TAGS: magnetic resonance imaging, mutation, phenotype, strabismus, family, translocation (genetics), oculomotor nerve, genes
Invest. Ophthalmol. Vis. Sci.. 2011; 52(9):6321-6328. doi: https://doi.org/10.1167/iovs.11-7950

ARVO Annual Meeting Abstract April 2011

TUBB3 Missense Mutations Cause Atypical Moebius Syndrome Phenotypically Identical to CFEOM3

Jessica K. Rankin; Wai-Man Chan; Caroline Andrews; David G. Hunter; Darren Oystreck; Sarah Mackinnon; Elizabeth C. Engle

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):6346. doi:

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology November 2009

Synergistic Divergence: A Distinct Ocular Motility Dysinnervation Pattern

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Darren T. Oystreck; Arif O. Khan; Antonio Aguirre Vila-Coro; Olugbemisola Oworu; Nada Al-Tassan; Wai-Man Chan; Elizabeth C. Engle; Thomas M. Bosley
TAGS: eye, eye movement, medial rectus muscle, abduction, gaze
Invest. Ophthalmol. Vis. Sci.. 2009; 50(11):5213-5216. doi: https://doi.org/10.1167/iovs.08-2928

Biochemistry and Molecular Biology August 2008

Multiple Gene Polymorphisms in the Complement Factor H Gene Are Associated with Exudative Age-Related Macular Degeneration in Chinese

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Tsz Kin Ng; Li Jia Chen; David T. L. Liu; Pancy O. S. Tam; Wai Man Chan; Ke Liu; Yi Jun Hu; Kelvin K. L. Chong; Charles S. L. Lau; Sylvia W. Y. Chiang; Dennis S. C. Lam; Chi Pui Pang
TAGS: chinese (other dialects), chinese people, complement factor h, exudative age-related macular degeneration, genes, haplotypes, polymorphism, single nucleotide polymorphism, disease susceptibility, introns
Invest. Ophthalmol. Vis. Sci.. 2008; 49(8):3312-3317. doi: https://doi.org/10.1167/iovs.07-1517

Includes: Supplemental Content

Biochemistry and Molecular Biology June 2008

HTRA1 Variants in Exudative Age-Related Macular Degeneration and Interactions with Smoking and CFH

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Pancy O. S. Tam; Tsz Kin Ng; David T. L. Liu; Wai Man Chan; Sylvia W. Y. Chiang; Li Jia Chen; Andrew DeWan; Josephine Hoh; Dennis S. C. Lam; Chi Pui Pang
TAGS: exudative age-related macular degeneration, htra1 gene, smoking, genotype, alleles
Invest. Ophthalmol. Vis. Sci.. 2008; 49(6):2357-2365. doi: https://doi.org/10.1167/iovs.07-1520

Retina November 2007

Genotype–Phenotype Analysis of Bietti’s Crystalline Dystrophy in Patients with CYP4V2 Mutations

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Timothy Y. Y. Lai; Tsz Kin Ng; Pancy O. S. Tam; Gary H. F. Yam; Jasmine W. S. Ngai; Wai-Man Chan; David T. L. Liu; Dennis S. C. Lam; Chi Pui Pang
TAGS: crystal structure, genotype, mutation, phenotype, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2007; 48(11):5212-5220. doi: https://doi.org/10.1167/iovs.07-0660

Retina January 2007

Regional Variations in the Relationship between Macular Thickness Measurements and Myopia

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Dennis Shun Chiu Lam; King Sai Leung; Shaheeda Mohamed; Wai-man Chan; Mahesh Shanmugam Palanivelu; Carol Yim Lui Cheung; Emmy Yuen Mei Li; Ricky Yiu Kwong Lai; Christopher Kai-shun Leung
TAGS: myopia
Invest. Ophthalmol. Vis. Sci.. 2007; 48(1):376-382. doi: https://doi.org/10.1167/iovs.06-0426

Glaucoma October 2005

Comparative Study of Retinal Nerve Fiber Layer Measurement by StratusOCT and GDx VCC, II: Structure/Function Regression Analysis in Glaucoma

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Christopher Kai-shun Leung; Kelvin Kam-Long Chong; Wai-man Chan; Cedric Ka-Fai Yiu; Man-yee Tso; Jackson Woo; Moon-Kwong Tsang; Kwok-kay Tse; Wing-ho Yung
TAGS: glaucoma, regression analysis, retinal nerve fiber layer, visual fields, comparative study research
Invest. Ophthalmol. Vis. Sci.. 2005; 46(10):3702-3711. doi: https://doi.org/10.1167/iovs.05-0490

Glaucoma September 2005

Comparative Study of Retinal Nerve Fiber Layer Measurement by StratusOCT and GDx VCC, I: Correlation Analysis in Glaucoma

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Christopher Kai-shun Leung; Wai-man Chan; Kelvin Kam-Long Chong; Wing-ho Yung; Kai-tat Tang; Jackson Woo; Woon-ming Chan; Kwok-kay Tse
TAGS: correlation studies, glaucoma, retinal nerve fiber layer, comparative study research
Invest. Ophthalmol. Vis. Sci.. 2005; 46(9):3214-3220. doi: https://doi.org/10.1167/iovs.05-0294

Glaucoma March 2005

Analysis of Retinal Nerve Fiber Layer and Optic Nerve Head in Glaucoma with Different Reference Plane Offsets, Using Optical Coherence Tomography

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Christopher Kai-shun Leung; Wai-man Chan; Yung-lam Hui; Wing-ho Yung; Jackson Woo; Moon-kwong Tsang; Kwok-kay Tse
TAGS: glaucoma, optic disk, optical coherence tomography, retinal nerve fiber layer
Invest. Ophthalmol. Vis. Sci.. 2005; 46(3):891-899. doi: https://doi.org/10.1167/iovs.04-1107

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology July 2004

Identification of KIF21A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

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Koki Yamada; Wai-Man Chan; Caroline Andrews; Thomas M. Bosley; Emin C. Sener; Johan T. Zwaan; Paul B. Mullaney; Banu T. Öztürk; A. Nurten Akarsu; Louise J. Sabol; Joseph L. Demer; Timothy J. Sullivan; Irene Gottlob; Peter Roggenkäemper; David A. Mackey; Clara E. de Uzcategui; Nicolas Uzcategui; Bruria Ben-Zeev; Elias I. Traboulsi; Adriano Magli; Teresa de Berardinis; Vincenzo Gagliardi; Sudha Awasthi-Patney; Marlene C. Vogel; Joseph F. Rizzo, III; Elizabeth C. Engle
TAGS: fibrosis, genetic pedigree, muscle of orbit, mutation, phenotype, ophthalmoplegia, eyelid ptosis
Invest. Ophthalmol. Vis. Sci.. 2004; 45(7):2218-2223. doi: https://doi.org/10.1167/iovs.03-1413

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Recurrent Rare Copy Number Variants Increase Risk for Esotropia

Rare Copy Number Variants Increase Risk for Esotropia

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

Optic Nerve Head Abnormalities Associated with Congenital Fibrosis of Extraocular Muscles

High Resolution in-vivo Imaging in Patients with PAX6 Mutations

Genotype-retinal phenotype correlations in infantile nystagmus

Expansion of the CHN1 Strabismus Phenotype

TUBB3 Missense Mutations Cause Atypical Moebius Syndrome Phenotypically Identical to CFEOM3

Synergistic Divergence: A Distinct Ocular Motility Dysinnervation Pattern

Multiple Gene Polymorphisms in the Complement Factor H Gene Are Associated with Exudative Age-Related Macular Degeneration in Chinese

HTRA1 Variants in Exudative Age-Related Macular Degeneration and Interactions with Smoking and CFH

Genotype–Phenotype Analysis of Bietti’s Crystalline Dystrophy in Patients with CYP4V2 Mutations

Regional Variations in the Relationship between Macular Thickness Measurements and Myopia

Comparative Study of Retinal Nerve Fiber Layer Measurement by StratusOCT and GDx VCC, II: Structure/Function Regression Analysis in Glaucoma

Comparative Study of Retinal Nerve Fiber Layer Measurement by StratusOCT and GDx VCC, I: Correlation Analysis in Glaucoma

Analysis of Retinal Nerve Fiber Layer and Optic Nerve Head in Glaucoma with Different Reference Plane Offsets, Using Optical Coherence Tomography

Identification of KIF21A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

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