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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. doi: https://doi.org/10.1167/tvst.9.7.2

Articles April 2020

Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1)

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Lea D. Bennett; Martin Klein; Finny T. John; Bojana Radojevic; Kaylie Jones; David G. Birch
TAGS: disease progression, inosine monophosphate, mutation, oxidoreductase, perimetry, retinitis pigmentosa, spectral-domain optical coherence tomography, visual fields, electroretinography, retina
Trans. Vis. Sci. Tech.. 2020; 9(5):14. doi: https://doi.org/10.1167/tvst.9.5.14

Special Issue March 2020

Application of a Deep Machine Learning Model for Automatic Measurement of EZ Width in SD-OCT Images of RP

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Yi-Zhong Wang; Daniel Galles; Martin Klein; Kirsten G. Locke; David G. Birch
TAGS: datasets, machine learning, pixel, spectral-domain optical coherence tomography, training, learning
Trans. Vis. Sci. Tech.. 2020; 9(2):15. doi: https://doi.org/10.1167/tvst.9.2.15

ARVO Annual Meeting Abstract July 2019

A novel SVA retrotransposon insertion in CHM results in loss of REP-1 protein causing choroideremia

Kaylie Webb-Jones; alina radziwon; David G Birch; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):412. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

The Rate of Progressive Loss of Central Subfield Thickness (CSFT) and Visual Function in Stargardt Macular Dystrophy (STGD)

Daniel Galles; David G Birch; Yi-Zhong Wang

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1887. doi: https://doi.org/

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. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Annual change in ellipsoid zone (EZ) length in patients with choroideremia

David G Birch; Kirsten G Locke; Yuhui Qui; Jenny Holt; David Kim; Peter Francis

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4476. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

A Deep Convolutional Neural Network (CNN) Model for Automatic Measurement of Ellipsoid Zone (EZ) Width in Retinitis Pigmentosa (RP)

Yi-Zhong Wang; Daniel Galles; Martin Klein; Kirsten G Locke; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1527. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Natural History of the Progression of RPGR-Associated X-Linked Retinitis Pigmentosa (XOLARIS) Study: Cross-Sectional Analysis of Baseline Characteristics

Moreno Menghini; David G Birch; Camiel Boon; Jacque L Duncan; M Dominik Fischer; Frank G Holz; Carel C B Hoyng; Kamron N Khan; Isabelle Anne Meunier; Mark E Pennesi; Eeva-Marja Kaarina Sankila; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5168. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Quantification of RPE changes in choroideremia using a Photoshop-based protocol

Yi Zhai; Manlong Xu; Ioannis Dimopoulos; David G Birch; Paul S Bernstein; Peter Francis; Jenny Holt; David Kirn; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6131. doi: https://doi.org/

Articles June 2019

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies

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Claire S. Barnes; Ronald A. Schuchard; David G. Birch; Gislin Dagnelie; Leah Wood; Robert K. Koenekoop; Ava K. Bittner
TAGS: adult, child, kinetics, octopus, perimetry, reliability, retinal dystrophies
Trans. Vis. Sci. Tech.. 2019; 8(3):36. doi: https://doi.org/10.1167/tvst.8.3.36

Includes: Supplemental Content

Articles May 2019

Histopathologic Assessment of Optic Nerves and Retina From a Patient With Chronically Implanted Argus II Retinal Prosthesis System

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Tai-Chi Lin; Lei-Chi Wang; Lan Yue; Yi Zhang; Paulo Falabella; Danhong Zhu; David R. Hinton; Narsing A. Rao; David G. Birch; Rand Spencer; Jessy D. Dorn; Mark S. Humayun
TAGS: eye, histopathology tests, implants, optic nerve, retina, visual prosthesis
Trans. Vis. Sci. Tech.. 2019; 8(3):31. doi: https://doi.org/10.1167/tvst.8.3.31

Visual Psychophysics and Physiological Optics March 2019

Regional Variations and Intra-/Intersession Repeatability for Scotopic Sensitivity in Normal Controls and Patients With Inherited Retinal Degenerations

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Lea D. Bennett; Georgiana Metz; Martin Klein; Kirsten G. Locke; Areeba Khwaja; David G. Birch
TAGS: perimetry, retinal degeneration, nose, retina
Invest. Ophthalmol. Vis. Sci.. 2019; 60(4):1122-1131. doi: https://doi.org/10.1167/iovs.18-25473

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. doi: https://doi.org/10.1167/iovs.18-24565

Includes: Supplemental Content

Perspective July 2018

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

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Jacque L. Duncan; Eric A. Pierce; Amy M. Laster; Stephen P. Daiger; David G. Birch; John D. Ash; Alessandro Iannaccone; John G. Flannery; José A. Sahel; Donald J. Zack; Marco A. Zarbin; and the Foundation Fighting Blindness Scientific Advisory Board
TAGS: genes, genetics, retinal degeneration, comprehension, animal model, mutation
Trans. Vis. Sci. Tech.. 2018; 7(4):6. doi: https://doi.org/10.1167/tvst.7.4.6

ARVO Annual Meeting Abstract July 2018

Relationships among Spectral Domain Optical Coherence Tomography (SD-OCT) Parameters and Semi-automated Kinetic Perimetry (SKP) Parameters in Subjects with Autosomal Dominant Retinitis Pigmentosa (adRP)

Kirsten G Locke; Donald C Hood; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):28. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Natural History of Progression of Choroideremia (NIGHT) Study: Cross-Sectional Analysis of Baseline Characteristics

Byron L Lam; M Dominik Fischer; Mark E Pennesi; Eeva-Marja Kaarina Sankila; Frank G. Holz; Robert E MacLaren; David G Birch; Ian M MacDonald; Carel C B Hoyng; Graeme Black; Neil M Bressler; Stephen H. Tsang; Kimberly E Stepien; Michael S Ip; Vedran Pavlovic; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3899. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Test-retest variability on the Medmont dark-adapted chromatic (DAC) perimeter in controls and patients with inherited retinal disease (IRD)

Lea D Bennett; Georgie Metz; Martin Klein; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4046. doi: https://doi.org/

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: https://doi.org/

ARVO Annual Meeting Abstract July 2018

The Natural History of the Progression of Choroideremia (NIGHT) Study: Longitudinal Changes in Visual Acuity over 12 Months

Mark E Pennesi; Byron L Lam; M Dominik Fischer; Eeva-Marja Kaarina Sankila; Frank G. Holz; Robert E MacLaren; David G Birch; Ian M MacDonald; Graeme Black; Carel C B Hoyng; Neil M Bressler; Stephen H. Tsang; Kimberly E Stepien; Michael S Ip; Vedran Pavlovic; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3898. doi: https://doi.org/

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

Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1)

Application of a Deep Machine Learning Model for Automatic Measurement of EZ Width in SD-OCT Images of RP

A novel SVA retrotransposon insertion in CHM results in loss of REP-1 protein causing choroideremia

The Rate of Progressive Loss of Central Subfield Thickness (CSFT) and Visual Function in Stargardt Macular Dystrophy (STGD)

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

Annual change in ellipsoid zone (EZ) length in patients with choroideremia

A Deep Convolutional Neural Network (CNN) Model for Automatic Measurement of Ellipsoid Zone (EZ) Width in Retinitis Pigmentosa (RP)

Natural History of the Progression of RPGR-Associated X-Linked Retinitis Pigmentosa (XOLARIS) Study: Cross-Sectional Analysis of Baseline Characteristics

Quantification of RPE changes in choroideremia using a Photoshop-based protocol

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies

Histopathologic Assessment of Optic Nerves and Retina From a Patient With Chronically Implanted Argus II Retinal Prosthesis System

Regional Variations and Intra-/Intersession Repeatability for Scotopic Sensitivity in Normal Controls and Patients With Inherited Retinal Degenerations

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

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

Relationships among Spectral Domain Optical Coherence Tomography (SD-OCT) Parameters and Semi-automated Kinetic Perimetry (SKP) Parameters in Subjects with Autosomal Dominant Retinitis Pigmentosa (adRP)

Natural History of Progression of Choroideremia (NIGHT) Study: Cross-Sectional Analysis of Baseline Characteristics

Test-retest variability on the Medmont dark-adapted chromatic (DAC) perimeter in controls and patients with inherited retinal disease (IRD)

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

The Natural History of the Progression of Choroideremia (NIGHT) Study: Longitudinal Changes in Visual Acuity over 12 Months

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