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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 June 2020

Using Artificial Intelligence (AI) to Classify Retinal Developmental Disorders

Helen Kuht; Shuihua Wang; Garima Nishad; Sharon George; Gail Maconachie; Viral Sheth; Zhanhan Tu; Michael Hisaund; Rebecca McLean; Seema Teli; Frank Proudlock; Girish Varma; Yu-Dong Zhang; Irene Gottlob; Mervyn George Thomas

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4030. doi:

ARVO Annual Meeting Abstract June 2020

Whole Genome Sequencing in Infantile Nystagmus

Mervyn George Thomas; Gail Maconachie; Rebecca McLean; Helen Kuht; Viral Sheth; Michael Hisaund; Swati Parida; Abdullah Aamir; Frank A Proudlock; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2350. 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 June 2017

Comparison of retinal development in idiopathic infantile nystagmus and nystagmus associated with albinism, PAX6 mutations and achromatopsia.

Mervyn George Thomas; Viral Sheth; Gail Maconachie; Sarim Ather; Rebecca Jane McLean; Frank A Proudlock; Susanne Kohl; Bart Peter Leroy; Anthony T Moore; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):861. doi:

ARVO Annual Meeting Abstract September 2016

A novel diagnostic next generation sequencing panel for infantile nystagmus

Mervyn George Thomas; Gail Maconachie; Viral Sheth; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4588. doi:

ARVO Annual Meeting Abstract September 2016

Retinal Development in Albinism: Evidence for Residual Plasticity in Early Childhood?

Helena Lee; Ravi Purohit; Viral Sheth; Gail Maconachie; Anastasia Pilat; Rebecca McLean; Frank A Proudlock; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5980. doi:

ARVO Annual Meeting Abstract September 2016

Genetic screening using next generation sequencing in an atypical presentation of episodic ataxia with dominant inheritance.

Gail Maconachie; Mervyn George Thomas; Cris Constantinescu; Viral Sheth; Rebecca McLean; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5983. doi:

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology August 2016

In Vivo Morphology of the Optic Nerve and Retina in Patients With Parkinson's Disease

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Anastasia Pilat; Rebecca J. McLean; Frank A. Proudlock; Gail D. E. Maconachie; Viral Sheth; Yusuf A. Rajabally; Irene Gottlob
TAGS: language morphology, morphology, optic disk, optic nerve, parkinson disease, retina, retinal nerve fiber layer, nose, cerebral hemisphere
Invest. Ophthalmol. Vis. Sci.. 2016; 57(10):4420-4427. doi: https://doi.org/10.1167/iovs.16-20020

Includes: Supplemental Content

Retina July 2015

In Vivo Foveal Development Using Optical Coherence Tomography

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Helena Lee; Ravi Purohit; Aarti Patel; Eleni Papageorgiou; Viral Sheth; Gail Maconachie; Anastasia Pilat; Rebecca J. McLean; Frank A. Proudlock; Irene Gottlob
TAGS: fovea centralis, infant, optical coherence tomography, retina, child
Invest. Ophthalmol. Vis. Sci.. 2015; 56(8):4537-4545. doi: https://doi.org/10.1167/iovs.15-16542

Includes: Multimedia, Supplemental Content

ARVO Annual Meeting Abstract June 2015

Retinal Development in Achromatopsia: A Prospective Study of Infants and Young Children using Optical Coherence Tomography

Helena Lee; Ravi Purohit; Viral Sheth; Rebecca Jane McLean; Gail Maconachie; Susanne Kohl; Bart Peter Leroy; Michel Michaelides; Frank A Proudlock; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5855. doi:

ARVO Annual Meeting Abstract April 2014

The developing optic nerve head in infantile idiopathic nystagmus and nystagmus associated to albinism

Ravi Purohit; Helena Lee; Aarti Patel; Viral Sheth; Gail Maconachie; Eleni Papageorgiou; Rebecca J McLean; Irene Gottlob; Frank A Proudlock

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):5980. doi:

ARVO Annual Meeting Abstract April 2014

Characteristics of Normal Optic Nerve Development Using Hand-Held Ultra-High Resolution Spectral Domain Optical Coherence Tomography in Children and Young Adults.

Dr Patel; Ravi Purohit; Helena Lee; Viral Sheth; Gail Maconachie; Eleni Papageorgiou; Frank A Proudlock; Rebecca J McLean; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6235. doi:

ARVO Annual Meeting Abstract April 2014

Characteristics of Normal Foveal Development in Infants and Young Children as Imaged Using Hand-Held Optical Coherence Tomography

Helena Lee; Ravi Purohit; Aarti Patel; Eleni Papageorgiou; Mashal Bibi; Viral Sheth; Gail Maconachie; Rebecca McLean; Frank A Proudlock; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):691. doi:

ARVO Annual Meeting Abstract April 2014

Exploring retinal development of strabismic infants using handheld optical coherence tomography

Gail Maconachie; Viral Sheth; Ravi Purohit; Helena Lee; Frank A Proudlock; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):4547. doi:

ARVO Annual Meeting Abstract June 2013

Characteristics of Infantile Nystagmus using Hand-Held Ultra-High Resolution Spectral Domain Optical Coherence Tomography in Infants and Small Children

Helena Lee; Viral Sheth; Mashal Bibi; Gail Maconachie; Aarti Patel; Frank Proudlock; Rebecca McLean; Michel Michaelides; Mervyn Thomas; Irene Gottlob; Ophthalmology group, University of Leicester

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):2326. doi:

ARVO Annual Meeting Abstract June 2013

Characteristics of Optic Nerve Development Using Hand-Held Ultra-High Resolution Spectral Domain Optical Coherence Tomography in Premature and Full-term Neonates

Aarti Patel; Helena Lee; Viral Sheth; Gail Maconachie; Frank Proudlock; Rebecca McLean; Samira Anwar; Joe Fawke; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):2640. 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:

ARVO Annual Meeting Abstract March 2012

Effect of Compliance to Glasses Wear on the Outcome of Visual Acuity after Refractive Adaptation

Gail Maconachie; Shegufta Farooq; Glen Bush; Frank A. Proudlock; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5609. doi:

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Recurrent Rare Copy Number Variants Increase Risk for Esotropia

Using Artificial Intelligence (AI) to Classify Retinal Developmental Disorders

Whole Genome Sequencing in Infantile Nystagmus

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

Comparison of retinal development in idiopathic infantile nystagmus and nystagmus associated with albinism, PAX6 mutations and achromatopsia.

A novel diagnostic next generation sequencing panel for infantile nystagmus

Retinal Development in Albinism: Evidence for Residual Plasticity in Early Childhood?

Genetic screening using next generation sequencing in an atypical presentation of episodic ataxia with dominant inheritance.

In Vivo Morphology of the Optic Nerve and Retina in Patients With Parkinson's Disease

In Vivo Foveal Development Using Optical Coherence Tomography

Retinal Development in Achromatopsia: A Prospective Study of Infants and Young Children using Optical Coherence Tomography

The developing optic nerve head in infantile idiopathic nystagmus and nystagmus associated to albinism

Characteristics of Normal Optic Nerve Development Using Hand-Held Ultra-High Resolution Spectral Domain Optical Coherence Tomography in Children and Young Adults.

Characteristics of Normal Foveal Development in Infants and Young Children as Imaged Using Hand-Held Optical Coherence Tomography

Exploring retinal development of strabismic infants using handheld optical coherence tomography

Characteristics of Infantile Nystagmus using Hand-Held Ultra-High Resolution Spectral Domain Optical Coherence Tomography in Infants and Small Children

Characteristics of Optic Nerve Development Using Hand-Held Ultra-High Resolution Spectral Domain Optical Coherence Tomography in Premature and Full-term Neonates

Genotype-retinal phenotype correlations in infantile nystagmus

Effect of Compliance to Glasses Wear on the Outcome of Visual Acuity after Refractive Adaptation

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