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Articles June 2020

Correlation of Immunological Markers with Disease and Clinical Outcome Measures in Patients with Autoimmune Retinopathy

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Lynn K. Stanwyck; Weilin Chan; Arjun Sood; Gayatri Susarla; John Romano; Maria Pefkianaki; Kanishka Thiran Jayasundera; John R. Heckenlively; Steven K. Lundy; Lucia Sobrin
TAGS: autoimmunity, retinal diseases, treatment outcome, b-lymphocytes
Trans. Vis. Sci. Tech.. 2020; 9(7):15. https://doi.org/10.1167/tvst.9.7.15

Includes: Supplemental Content

Review June 2020

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

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Debra A. Thompson; Alessandro Iannaccone; Robin R. Ali; Vadim Y. Arshavsky; Isabelle Audo; James W. B. Bainbridge; Cagri G. Besirli; David G. Birch; Kari E. Branham; Artur V. Cideciyan; Steven P. Daiger; Deniz Dalkara; Jacque L. Duncan; Abigail T. Fahim; John G. Flannery; Roberto Gattegna; John R. Heckenlively; Elise Heon; K. Thiran Jayasundera; Naheed W. Khan; Henry Klassen; Bart P. Leroy; Robert S. Molday; David C. Musch; Mark E. Pennesi; Simon M. Petersen-Jones; Eric A. Pierce; Rajesh C. Rao; Thomas A. Reh; Jose A. Sahel; Dror Sharon; Paul A. Sieving; Enrica Strettoi; Paul Yang; David N. Zacks; The Monaciano Consortium
TAGS: outcome measures, retinal diseases, surrogate endpoints, genetics, vision, natural history, ethics, gene therapy
Trans. Vis. Sci. Tech.. 2020; 9(7):2. https://doi.org/10.1167/tvst.9.7.2

ARVO Annual Meeting Abstract July 2019

Correlation of immunohistochemical markers with disease and clinical outcome measures in patients with autoimmune retinopathy

Weilin Chan; Lynn Stanwyck; Arjun sood; John Romano; Maria Pefkianaki; Thiran Jayasundera; John R Heckenlively; Steven K Lundy; Lucia Sobrin

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6676.

ARVO Annual Meeting Abstract July 2019

X-Chromosome Inactivation is a Biomarker of Clinical Severity in Female Carriers of X-linked Retinitis Pigmentosa

Abigail T Fahim; Lori S Sullivan; Sara J Bowne; Kaylie Webb-Jones; Dianna K.H. Wheaton; Kari E Branham; Mohammad Othman; Athanasios J Karoukis; Chris Andrews; John R Heckenlively; David G Birch; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2961.

Retina December 2018

Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months

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Mark E. Pennesi; David G. Birch; K. Thiran Jayasundera; Maria Parker; Ou Tan; Rabia Gurses-Ozden; Carrie Reichley; Kathleen N. Beasley; Paul Yang; Richard G. Weleber; Lea D. Bennett; John R. Heckenlively; Kalyani Kothapalli; Jeffrey D. Chulay; for the XLRS-001 Study Group
TAGS: cysts, electroretinography, eye, perimetry, vision, visual acuity, volume, x-linked retinoschisis, contrast sensitivity, cutaneous collagenous vasculopathy
Invest. Ophthalmol. Vis. Sci.. 2018; 59(15):5941-5956. https://doi.org/10.1167/iovs.18-24565

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

The journey from clinical to genetic diagnosis in Stargardt disease

Dana Schlegel; Kari E Branham; John R Heckenlively; Abigail T Fahim; Thiran Jayaundera

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1433.

ARVO Annual Meeting Abstract June 2017

Identification of pathogenic mutations in patients with inherited retinal dystrophies using whole genome sequencing

Kari E Branham; Pooja Biswas; Luis Alexandre Rassi Gabriel; Angel Soto-Hermida; Hiroko Matsui; Amalio Telenti; Kelly A Frazer; John R Heckenlively; Paul A Sieving; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2754.

ARVO Annual Meeting Abstract June 2017

An ancestral mutation in SAG (S-antigen visual arrestin-1) is a common cause of autosomal dominant retinitis pigmentosa in Hispanics

Lori S Sullivan; Sara J Bowne; Kaylie Webb-Jones; John R Heckenlively; Daniel C. Koboldt; Yumei Li; Rui Chen; Vsevolod Gurevich; David G Birch; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2763.

ARVO Annual Meeting Abstract June 2017

Peripheral pigmented lesions in Stargardt disease

Maria Fernanda Abalem; Peter Yu Cheng Zhao; Daniel Nadelman; Cynthia Xin-Ya Qian; Kari E Branham; Dana Schlegel; Naheed Wali Khan; John R Heckenlively; Thiran Jayasundera

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3262.

ARVO Annual Meeting Abstract June 2017

Contribution of Th1 and Th17 Cell Responses toward Recoverin Retinal Autoantigen to the Pathogenesis of Autoimmune Retinopathy

Enayat Nikoopour; Cheng-mao Lin; Ray Ohara; John R Heckenlively; Steven K Lundy

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):540.

ARVO Annual Meeting Abstract June 2017

Importance of Checking for Active Autoimmunity in Genetically-Confirmed Retinal Dystrophy Patients

Steven K Lundy; Athanasios J Karoukis; Ray Ohara; Enayat Nikoopour; Mohammad I Othman; Maria Fernanda Abalem; Thiran Jayasundera; Kari E Branham; John R Heckenlively

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):556.

Biochemistry and Molecular Biology May 2017

A Novel Dominant Mutation in SAG , the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

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Lori S. Sullivan; Sara J. Bowne; Daniel C. Koboldt; Elizabeth L. Cadena; John R. Heckenlively; Kari E. Branham; Dianna H. Wheaton; Kaylie D. Jones; Richard S. Ruiz; Mark E. Pennesi; Paul Yang; David Davis-Boozer; Hope Northrup; Vsevold V. Gurevich; Rui Chen; Mingchu Xu; Yumei Li; David G. Birch; Stephen P. Daiger
TAGS: arrestin, family, genes, mutation, retinitis pigmentosa, hispanics or latinos
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2774-2784. https://doi.org/10.1167/iovs.16-21341

ARVO Annual Meeting Abstract September 2016

Reliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: implications in therapeutic clinical trials

Vaidehi S Dedania; Jerry Yi Liu; Dana Schlegel; Chris A Andrews; Kari Branham; Naheed W Khan; John R Heckenlively; Kanishka Thiran Jayasundera

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5387.

ARVO Annual Meeting Abstract September 2016

Characteristics of 3’ORF15 mutations in RPGR

Kari E Branham; Naheed W Khan; Dana Schlegel; Kanishka Thiran Jayasundera; John R Heckenlively

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

ARVO Annual Meeting Abstract June 2015

Loss of Natural Immune Tolerance Toward Recoverin in Patients with Autoimmune Retinopathy

Steven Lundy; John R Heckenlively

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):865.

ARVO Annual Meeting Abstract June 2015

Occult optic neuropathy: A newly recognized disorder which superficially mimics RP

John R Heckenlively; Naheed W Khan

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3796.

ARVO Annual Meeting Abstract June 2015

Outer segment thickness rather than total retina thickness predicts macular function in X-Linked Retinoschisis (XLRS)

Lea D Bennett; Mark E Pennesi; Joycelyn Niimi; David J Wilson; Laura Erker; Maria Parker; John R Heckenlively; Kari E Branham; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3834.

ARVO Annual Meeting Abstract June 2015

Analysis of visual acuity and cyst volume measurements in a natural history study in X-Linked Retinoschisis (XLRS)

Mark E Pennesi; Ou Tan; Maria Parker; Laura Erker; Lea D Bennett; David Huang; David G Birch; John R Heckenlively; Jeffrey D Chulay; David J Wilson

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3835.

ARVO Annual Meeting Abstract June 2015

Genetic Testing in an Inherited Retinal Dystrophy Clinic

Kari E Branham; Dana Schlegel; Naheed W Khan; Thiran Jayasundera; John R Heckenlively

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3843.

Review February 2015

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

PDF

Debra A. Thompson; Robin R. Ali; Eyal Banin; Kari E. Branham; John G. Flannery; David M. Gamm; William W. Hauswirth; John R. Heckenlively; Alessandro Iannaccone; K. Thiran Jayasundera; Naheed W. Khan; Robert S. Molday; Mark E. Pennesi; Thomas A. Reh; Richard G. Weleber; David N. Zacks; for the Monaciano Consortium
TAGS: retinal degeneration, retinal dystrophies, gene therapy, universities, comprehension, transplantation
Invest. Ophthalmol. Vis. Sci.. 2015; 56(2):918-931. https://doi.org/10.1167/iovs.14-16049

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Correlation of Immunological Markers with Disease and Clinical Outcome Measures in Patients with Autoimmune Retinopathy

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

Correlation of immunohistochemical markers with disease and clinical outcome measures in patients with autoimmune retinopathy

X-Chromosome Inactivation is a Biomarker of Clinical Severity in Female Carriers of X-linked Retinitis Pigmentosa

Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months

The journey from clinical to genetic diagnosis in Stargardt disease

Identification of pathogenic mutations in patients with inherited retinal dystrophies using whole genome sequencing

An ancestral mutation in SAG (S-antigen visual arrestin-1) is a common cause of autosomal dominant retinitis pigmentosa in Hispanics

Peripheral pigmented lesions in Stargardt disease

Contribution of Th1 and Th17 Cell Responses toward Recoverin Retinal Autoantigen to the Pathogenesis of Autoimmune Retinopathy

Importance of Checking for Active Autoimmunity in Genetically-Confirmed Retinal Dystrophy Patients

A Novel Dominant Mutation in SAG , the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

Reliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: implications in therapeutic clinical trials

Characteristics of 3’ORF15 mutations in RPGR

Loss of Natural Immune Tolerance Toward Recoverin in Patients with Autoimmune Retinopathy

Occult optic neuropathy: A newly recognized disorder which superficially mimics RP

Outer segment thickness rather than total retina thickness predicts macular function in X-Linked Retinoschisis (XLRS)

Analysis of visual acuity and cyst volume measurements in a natural history study in X-Linked Retinoschisis (XLRS)

Genetic Testing in an Inherited Retinal Dystrophy Clinic

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

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