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Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology March 2025

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays

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Julie A. Jurgens; Paola M. Matos Ruiz; Jessica King; Emma E. Foster; Lindsay Berube; Wai-Man Chan; Brenda J. Barry; Raehoon Jeong; Elisabeth Rothman; Mary C. Whitman; Sarah MacKinnon; Cristina Rivera-Quiles; Brandon M. Pratt; Teresa Easterbrooks; Fiona M. Mensching; Silvio Alessandro Di Gioia; Lynn Pais; Eleina M. England; Teresa de Berardinis; Adriano Magli; Feray Koc; Kazuhide Asakawa; Koichi Kawakami; Anne O'Donnell-Luria; David G. Hunter; Caroline D. Robson; Martha L. Bulyk; Elizabeth C. Engle
TAGS: cranium, genes, motor neurons, protein binding, screening, zebrafish, transcription factor, candidate disease gene, pathogenicity
Invest. Ophthalmol. Vis. Sci.. 2025; 66(3):62. https://doi.org/10.1167/iovs.66.3.62

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2022

Truncating PAX6 mutations result in severe arrested retinal development with loss of cone photoreceptor specialisation: A multi-centre study

Mervyn George Thomas; Helen Kuht; Jinu Han; Gail Maconachie; Rebecca McLean; Zhanhan Tu; Viral Sheth; Martin Tobin; Brian Patrick Brooks; Elizabeth Engle; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1838.

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. 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.

ARVO Annual Meeting Abstract July 2019

The Liberfarb syndrome, a multisystem disorder including early-onset retinal degeneration, is caused by a founder mutation in the PISD gene in patients from Portugal, Brazil, and the Azores islands

Virginie Gisèle Peter; Mathieu Quinodoz; Jorge Pinto-Basto; Sergio De Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo Silva; Elizabeth Engle; Noriko Miyake; Naomichi Matsumoto; Sheila Unger; Frederic Shapiro; Belinda Campos-Xavier; Andrea Superti-Furga; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):411.

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology October 2018

Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis

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Mary C. Whitman; Elaine H. Nguyen; Jessica L. Bell; Alan P. Tenney; Alon Gelber; Elizabeth C. Engle
TAGS: axon, cxcr4 receptors, signal transduction, stromal cell-derived factor 1, synkinesis, oculomotor synkinesis, oculomotor nerve, motor neurons, embryo
Invest. Ophthalmol. Vis. Sci.. 2018; 59(12):5201-5209. https://doi.org/10.1167/iovs.18-25190

Includes: Multimedia, 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. https://doi.org/10.1167/iovs.18-24082

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Loss of CXCR4 signaling in motor neurons leads to misrouting of the oculomotor nerve and oculomotor synkinesis

Mary Whitman; Elaine Nguyen; Elizabeth Engle

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1580.

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.

ARVO Annual Meeting Abstract June 2017

Ocular motor nerve development in the presence and absence of extraocular muscle

Suzanne Marie Michalak; Jong Park; Mary Whitman; Max Tischfield; Elizabeth Engle

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2999.

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology April 2017

Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle

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Suzanne M. Michalak; Mary C. Whitman; Jong G. Park; Max A. Tischfield; Elaine H. Nguyen; Elizabeth C. Engle
TAGS: embryo, motor nerve, motor neurons, muscle, muscle of orbit, neurons, orbit, mice, axon, diagnostic imaging
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2388-2396. https://doi.org/10.1167/iovs.16-21268

ARVO Annual Meeting Abstract September 2016

Disruptions in abducens nerve development can cause Duane’s retraction syndrome

Jong Park; Alicia Nugent; Elizabeth Engle

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2461.

ARVO Annual Meeting Abstract September 2016

Normal development of the oculomotor system in mice

Suzanne Michalak; Mary Whitman; Alicia Nugent; Jong Park; Long Cheng; Elizabeth Engle

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4570.

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.

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.

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. 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.

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology September 2010

Evidence of an Asymmetrical Endophenotype in Congenital Fibrosis of Extraocular Muscles Type 3 Resulting from TUBB3 Mutations

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Joseph L. Demer; Robert A. Clark; Max A. Tischfield; Elizabeth C. Engle
TAGS: amino acid substitution, congenital fibrosis of the extraocular muscles, endophenotypes, eye, eyelid ptosis, genetic pedigree, magnetic resonance imaging, muscle, mutation, phenotype
Invest. Ophthalmol. Vis. Sci.. 2010; 51(9):4600-4611. https://doi.org/10.1167/iovs.10-5438

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. https://doi.org/10.1167/iovs.08-2928

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology December 2007

Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome

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Joseph L. Demer; Robert A. Clark; Key Hwan Lim; Elizabeth C. Engle
TAGS: magnetic resonance imaging, muscle of orbit, syndrome, diagnostic imaging, eye, optic nerve
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5505-5511. https://doi.org/10.1167/iovs.07-0772

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Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays

Truncating PAX6 mutations result in severe arrested retinal development with loss of cone photoreceptor specialisation: A multi-centre study

Recurrent Rare Copy Number Variants Increase Risk for Esotropia

Rare Copy Number Variants Increase Risk for Esotropia

The Liberfarb syndrome, a multisystem disorder including early-onset retinal degeneration, is caused by a founder mutation in the PISD gene in patients from Portugal, Brazil, and the Azores islands

Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis

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

Loss of CXCR4 signaling in motor neurons leads to misrouting of the oculomotor nerve and oculomotor synkinesis

Optic Nerve Head Abnormalities Associated with Congenital Fibrosis of Extraocular Muscles

Ocular motor nerve development in the presence and absence of extraocular muscle

Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle

Disruptions in abducens nerve development can cause Duane’s retraction syndrome

Normal development of the oculomotor system in mice

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

Evidence of an Asymmetrical Endophenotype in Congenital Fibrosis of Extraocular Muscles Type 3 Resulting from TUBB3 Mutations

Synergistic Divergence: A Distinct Ocular Motility Dysinnervation Pattern

Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome

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