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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: meta-analysis, esotropia, cohort studies, disease susceptibility, genome, parent, single nucleotide polymorphism, strabismus, genetics, genome-wide association study
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4054-4064. doi: 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

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

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 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

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 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

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:

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:

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: marfan syndrome, rodentia, mice, fibrillins
Invest. Ophthalmol. Vis. Sci.. 2013; 54(13):8337-8344. doi: 10.1167/iovs.13-13121

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

CHRDL1 Mutations Cause X-linked Megalocornea and Reveal an Unexpected Role for the Encoded Protein Ventroptin in Anterior Segment Development

Jessica C. Gardner; Tom R. Webb; Mar Matarin; Elias I. Traboulsi; Jane C. Sowden; Michel Michaelides; Sanjay M. Sisodiya; David A. Mackey; Stephen J. Tuft; Alison J. Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):2254. doi:

ARVO Annual Meeting Abstract March 2012

Retinal Histopathology in Eyes from a Patient with Autosomal Dominant Retinitis Pigmentosa caused by the Pro23His Rhodopsin Mutation

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

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):6443. doi:

ARVO Annual Meeting Abstract March 2012

Retinal Histopathology from a Patient with Autosomal Recessive Retinitis Pigmentosa caused by EYS Mutations

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

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):6444. doi:

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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

Ellipsoid Zone Mapping and Outer Retinal Assessment in Stargardt disease

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 Patients with Stargardt Disease.

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

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

A Novel Nonsense Mutation in KCNJ13 Causes Leber Congenital Amaurosis

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

CHRDL1 Mutations Cause X-linked Megalocornea and Reveal an Unexpected Role for the Encoded Protein Ventroptin in Anterior Segment Development

Retinal Histopathology in Eyes from a Patient with Autosomal Dominant Retinitis Pigmentosa caused by the Pro23His Rhodopsin Mutation

Retinal Histopathology from a Patient with Autosomal Recessive Retinitis Pigmentosa caused by EYS Mutations

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