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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

Novel mutation in CTNNB1 causing familial exudative vitreoretinopathy and microcephaly

Razek Georges Coussa; Yue Zhao; Meghan J DeBenedictis; Allison Babiuch; Jonathan E Sears; Elias I Traboulsi

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2947. 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

Progression of Stargardt disease as measured by spectral-domain optical coherence tomography (SD-OCT) in the ProgStar Study

Rupert Wolfgang Strauss; Xiangrong Kong; Beatriz E Munoz; Sheila K West; Michael S Ip; Alexander Ho; Anamika Jha; Paul S Bernstein; David G Birch; Artur V Cideciyan; Michel Michaelides; José-Alain Sahel; Janet S Sunness; Elias I Traboulsi; Eberhart Zrenner; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1568. doi:

ARVO Annual Meeting Abstract June 2017

Genetic characteristics of an international large cohort with Stargardt disease: The ProgStar study

Kaoru Fujinami; Rupert Wolfgang Strauss; John Chiang; Isabelle S Audo; Paul S Bernstein; David G Birch; Samuel G Jacobson; Brian C Mansfield; Meghan J Marino; Jose Alain Sahel; Saddek Mohand-Said; Janet S Sunness; Elias I Traboulsi; Eberhart Zrenner; Michel Michaelides; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4638. doi:

ARVO Annual Meeting Abstract September 2016

Retinal Histopathology in Eyes from Patients with Stargardt Disease.

Mary E Rayborn; Vera L Bonilha; Brent A Bell; Meghan J Marino; Elias I Traboulsi; Stephanie A Hagstrom; Joe G Hollyfield

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6597. doi:

ARVO Annual Meeting Abstract September 2016

Ellipsoid Zone Mapping and Outer Retinal Assessment in Stargardt disease

Sruthi Arepalli; Elias I Traboulsi; Justis P Ehlers

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2692. doi:

ARVO Annual Meeting Abstract September 2016

Associations between fundus autofluorescence and spectral-domain optical coherence tomography in Stargardt disease at baseline of the prospective ProgStar study.

Yulia Wolfson; Beatriz E Munoz; Rupert Wolfgang Strauss; Alexander Ho; Anamika Jha; Elias I Traboulsi; Artur V Cideciyan; Michel Michaelides; Srinivas R Sadda; Sheila K West; Hendrik P Scholl

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

ARVO Annual Meeting Abstract September 2016

Progression of atrophic lesions prospectively determined by fundus autofluorescence: the natural history of the progression of atrophy secondary to Stargardt disease (ProgStar) study

Rupert Wolfgang Strauss; Xiangrong Kong; Anamika Jha; Paul S Bernstein; Michel Michaelides; Jose Sahel; Elias I Traboulsi; Eberhart Zrenner; Sheila K West; Srinivas R Sadda; Hendrik P Scholl

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

ARVO Annual Meeting Abstract September 2016

Visual acuity loss during one year in Stargardt Disease: ProgStar Prospective Study

Xiangrong Kong; Rupert Wolfgang Strauss; Ann-Margret Ervin; Paul S Bernstein; Artur V Cideciyan; Janet S Sunness; Elias I Traboulsi; Beatriz E Munoz; Mohamed Ahmed; Sheila K West; Hendrik P Scholl

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

ARVO Annual Meeting Abstract June 2015

Retinal Histopathology in Eyes from a Patient with Cone Dystrophy.

Meghan J Marino; Vera L Bonilha; Mary E Rayborn; Brent A Bell; Elias I Traboulsi; Stephanie A Hagstrom; Joe G Hollyfield

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2402. doi:

ARVO Annual Meeting Abstract June 2015

A Novel CRX Mutation in a Family with Findings Suggestive of Benign Concentric Annular Macular Dystrophy

Joseph F Griffith; Meghan J Marino; Elias I Traboulsi

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2868. doi:

ARVO Annual Meeting Abstract June 2015

Retinitis Pigmentosa or Sperm Dysfunction as the Only Signs of BBS2 Mutations

Brian D Perkins; Meghan J Marino; Gayle J T Pauer; John (pei wen) Chiang; Glenn Lobo; Joseph Fogerty; Stephanie A Hagstrom; Elias I Traboulsi

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2869. doi:

ARVO Annual Meeting Abstract April 2014

A Novel Nonsense Mutation in KCNJ13 Causes Leber Congenital Amaurosis

Bikash R Pattnaik; Meghan J Marino; John Chiang; De-Ann M Pillers; Elias I Traboulsi

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3283. doi:

ARVO Annual Meeting Abstract April 2014

Retinal Histopathology in Eyes from a Patient with Digenic Usher Syndrome Caused by Mutations in USH2A and GPR98 .

Meghan J Marino; Vera L Bonilha; Mary E Rayborn; Brent A Bell; William J Kimberling; Elias I Traboulsi; Stephanie A Hagstrom; Joe G Hollyfield

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6331. doi:

ARVO Annual Meeting Abstract April 2014

Retinal Histopathology in Eyes from Patients with Best Disease Caused by VMD2 Mutations

Mary E Rayborn; Vera L Bonilha; Brent A Bell; Meghan J Marino; Gayle J T Pauer; Elias I Traboulsi; Craig D Beight; Stephanie A Hagstrom; Gerald A Fishman; Joe G Hollyfield

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6332. doi:

ARVO Annual Meeting Abstract April 2014

Retinal Histopathology in Eyes from a Carrier of XLRP with an RP2 Mutation

Gayle J T Pauer; Vera L Bonilha; Mary E Rayborn; Brent A Bell; Meghan J Marino; John R Heckenlively; Elias I Traboulsi; Stephanie A Hagstrom; Joe G Hollyfield

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6338. doi:

ARVO Annual Meeting Abstract April 2014

Diagnostic Precision in a Tertiary Care Specialty Retinal Dystrophy Clinic

Elias I Traboulsi; Meghan J Marino

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6390. doi:

Biochemistry and Molecular Biology December 2013

Nonselective Assembly of Fibrillin 1 and Fibrillin 2 in the Rodent Ocular Zonule and in Cultured Cells: Implications for Marfan Syndrome

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Lauren C. Beene; Lauren W. Wang; Dirk Hubmacher; Douglas R. Keene; Dieter P. Reinhardt; Douglas S. Annis; Deane F. Mosher; Robert P. Mecham; Elias I. Traboulsi; Suneel S. Apte
TAGS: fibrillins, mice, rodentia, marfan syndrome
Invest. Ophthalmol. Vis. Sci.. 2013; 54(13):8337-8344. doi: https://doi.org/10.1167/iovs.13-13121

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Mutations In Lca9 Cause Human Congenital Blindness Due To Leber Congenital Amaurosis

Irma Lopez-Solache; Robert K. Koenekoop; Huanan Ren; Vafa Keser; Qing Fu; Mohamed A. Genead; Gerry Fishman; Elias I. Traboulsi; Hui Wang; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1733. doi:

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Recurrent Rare Copy Number Variants Increase Risk for Esotropia

Novel mutation in CTNNB1 causing familial exudative vitreoretinopathy and microcephaly

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

Progression of Stargardt disease as measured by spectral-domain optical coherence tomography (SD-OCT) in the ProgStar Study

Genetic characteristics of an international large cohort with Stargardt disease: The ProgStar study

Retinal Histopathology in Eyes from Patients with Stargardt Disease.

Ellipsoid Zone Mapping and Outer Retinal Assessment in Stargardt disease

Associations between fundus autofluorescence and spectral-domain optical coherence tomography in Stargardt disease at baseline of the prospective ProgStar study.

Progression of atrophic lesions prospectively determined by fundus autofluorescence: the natural history of the progression of atrophy secondary to Stargardt disease (ProgStar) study

Visual acuity loss during one year in Stargardt Disease: ProgStar Prospective Study

Retinal Histopathology in Eyes from a Patient with Cone Dystrophy.

A Novel CRX Mutation in a Family with Findings Suggestive of Benign Concentric Annular Macular Dystrophy

Retinitis Pigmentosa or Sperm Dysfunction as the Only Signs of BBS2 Mutations

A Novel Nonsense Mutation in KCNJ13 Causes Leber Congenital Amaurosis

Retinal Histopathology in Eyes from a Patient with Digenic Usher Syndrome Caused by Mutations in USH2A and GPR98 .

Retinal Histopathology in Eyes from Patients with Best Disease Caused by VMD2 Mutations

Retinal Histopathology in Eyes from a Carrier of XLRP with an RP2 Mutation

Diagnostic Precision in a Tertiary Care Specialty Retinal Dystrophy Clinic

Nonselective Assembly of Fibrillin 1 and Fibrillin 2 in the Rodent Ocular Zonule and in Cultured Cells: Implications for Marfan Syndrome

Mutations In Lca9 Cause Human Congenital Blindness Due To Leber Congenital Amaurosis

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