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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. https://doi.org/10.1167/iovs.61.10.22

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

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 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.

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

ARVO Annual Meeting Abstract April 2010

Magnetic Resonance Imaging (MRI) Evidence of an Asymmetrical Endophenotype in Congenital Fibrosis of Extraocular Muscles Type 3 Due to TUBB3 Mutation

J. L. Demer; R. A. Clark; M. A. Tischfield; E. C. Engle

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):4762.

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

ARVO Annual Meeting Abstract April 2009

Evidence for a New Recessive CFEOM Locus

G. Heidary; N. Miyake; K. Yamada; W.-M. Chan; C. Andrews; E. I. Traboulsi; E. C. Engle

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):4129.

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

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

Abnormalities of the Oculomotor Nerve in Congenital Fibrosis of the Extraocular Muscles and Congenital Oculomotor Palsy

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Key Hwan Lim; Elizabeth C. Engle; Joseph L. Demer
TAGS: fibrosis, muscle of orbit, oculomotor nerve, oculomotor nerve diseases, magnetic resonance imaging, paralysis, eye, diameter
Invest. Ophthalmol. Vis. Sci.. 2007; 48(4):1601-1606. https://doi.org/10.1167/iovs.06-0691

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

Two Pedigrees Segregating Duane’s Retraction Syndrome as a Dominant Trait Map to the DURS2 Genetic Locus

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Elizabeth C. Engle; Caroline Andrews; Krystal Law; Joseph L. Demer
TAGS: dominant inheritance, duane retraction syndrome, genetic pedigree, genetics
Invest. Ophthalmol. Vis. Sci.. 2007; 48(1):189-193. https://doi.org/10.1167/iovs.06-0631

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

Magnetic Resonance Imaging Evidence for Widespread Orbital Dysinnervation in Dominant Duane’s Retraction Syndrome Linked to the DURS2 Locus

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Joseph L. Demer; Robert A. Clark; Key-Hwan Lim; Elizabeth C. Engle
TAGS: duane retraction syndrome, eye, magnetic resonance imaging, diagnostic imaging, orbit
Invest. Ophthalmol. Vis. Sci.. 2007; 48(1):194-202. https://doi.org/10.1167/iovs.06-0632

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology February 2005

Magnetic Resonance Imaging Evidence For Widespread Orbital Dysinnervation in Congenital Fibrosis of Extraocular Muscles Due to Mutations in KIF21A

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Joseph L. Demer; Robert A. Clark; Elizabeth C. Engle
TAGS: magnetic resonance imaging, mutation, diagnostic imaging, congenital fibrosis of the extraocular muscles, eye, muscle, orbit, motor nerve
Invest. Ophthalmol. Vis. Sci.. 2005; 46(2):530-539. https://doi.org/10.1167/iovs.04-1125

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. https://doi.org/10.1167/iovs.03-1413

ARVO Annual Meeting Abstract December 2002

Clinical Management and PHOX2A Mutation Analysis in Patients with Familial and Sporadic forms of Congenital Fibrosis of the Extraocular Muscles (CFEOM)

A Yazdani; DC Chung; EC Engle; EI Traboulsi

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):1458.

ARVO Annual Meeting Abstract December 2002

Elevation Of One Eye During Tooth Brushing

I Gottlob; S Jain; EC Engle

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):1459.

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology July 1999

CFEOM3: A New Extraocular Congenital Fibrosis Syndrome that Maps to 16q24.2-q24.3

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Edward J. Doherty; Margaret E. Macy; Susan M. Wang; Catherine P. Dykeman; Maureen T. Melanson; Elizabeth C. Engle
TAGS: eye, eyelid ptosis, family, fibrosis, maps, syndrome, genetic linkage analysis, genes
Invest. Ophthalmol. Vis. Sci.. 1999; 40(8):1687-1694.

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Recurrent Rare Copy Number Variants Increase Risk for Esotropia

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

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

High Resolution in-vivo Imaging in Patients with PAX6 Mutations

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

Magnetic Resonance Imaging (MRI) Evidence of an Asymmetrical Endophenotype in Congenital Fibrosis of Extraocular Muscles Type 3 Due to TUBB3 Mutation

Synergistic Divergence: A Distinct Ocular Motility Dysinnervation Pattern

Evidence for a New Recessive CFEOM Locus

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

Abnormalities of the Oculomotor Nerve in Congenital Fibrosis of the Extraocular Muscles and Congenital Oculomotor Palsy

Two Pedigrees Segregating Duane’s Retraction Syndrome as a Dominant Trait Map to the DURS2 Genetic Locus

Magnetic Resonance Imaging Evidence for Widespread Orbital Dysinnervation in Dominant Duane’s Retraction Syndrome Linked to the DURS2 Locus

Magnetic Resonance Imaging Evidence For Widespread Orbital Dysinnervation in Congenital Fibrosis of Extraocular Muscles Due to Mutations in KIF21A

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

Clinical Management and PHOX2A Mutation Analysis in Patients with Familial and Sporadic forms of Congenital Fibrosis of the Extraocular Muscles (CFEOM)

Elevation Of One Eye During Tooth Brushing

CFEOM3: A New Extraocular Congenital Fibrosis Syndrome that Maps to 16q24.2-q24.3

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