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Genetics June 2021

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

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Mariana Matioli da Palma; Austin D. Igelman; Cristy Ku; Amanda Burr; Jia Yue You; Emily M. Place; Nan-Kai Wang; Jin Kyun Oh; Kari E. Branham; Xinxin Zhang; Jeeyun Ahn; Michael B. Gorin; Byron L. Lam; Cecinio C. Ronquillo; Paul S. Bernstein; Aaron Nagiel; Rachel Huckfeldt; Michelle T. Cabrera; John P. Kelly; Benjamin Bakall; Alessandro Iannaccone; Robert B. Hufnagel; Wadih M. Zein; Robert K. Koenekoop; David G. Birch; Paul Yang; Abigail T. Fahim; Mark E. Pennesi
TAGS: arteriohepatic dysplasia, eye
Invest. Ophthalmol. Vis. Sci.. 2021; 62(7):27. doi: https://doi.org/10.1167/iovs.62.7.27

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

NIGHT study: natural progression of choroideremia

Byron L Lam; Robert E MacLaren; M. Dominik Fischer; Frank G Holz; Mark E Pennesi; David G Birch; Eeva-Marja Sankila; Isabelleanne Meunier; Kimberly E Stepien; Juliana M.F. Sallum; Cindy Lu; Jiajun Liu; Dan Yoon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):34. doi:

ARVO Annual Meeting Abstract June 2021

Changes of Fixation Stability and Fixation Location over 24 Months in Stargardt Disease: the ProgStar Study

Etienne Schönbach; Rupert Strauss; Marco Cattaneo; David G Birch; Artur V Cideciyan; Janet S Sunness; Kaoru Fujinami; Eberhart Zrenner; Srinivas R Sadda; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2167. doi:

ARVO Annual Meeting Abstract June 2021

Six Month Findings from a Phase 1/2 Clinical Study of Subretinal Gene Therapy Drug AGTC-501 for X-Linked Retinitis Pigmentosa Show Clinically Meaningful Improvement in Macular Sensitivity

Paul Yang; Andreas Lauer; Mark E Pennesi; David G Birch; rand spencer; Robert A Sisk; Alessandro Iannaccone; Erin Leone; Deanine Halliman; Nnenna Ihekoromadu; Matthew Feinsod

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1481. doi:

ARVO Annual Meeting Abstract June 2021

Visual function improvements with BIIB112 (NSR-RPGR) in X-linked retinitis pigmentosa: XIRIUS (dose-expansion) and XOLARIS (natural disease progression) studies

Robert E MacLaren; Byron L Lam; Andrew J Lotery; Paulo Eduardo Stanga; Assad Jalil; Mark E Pennesi; David G Birch; Christine Kay; Jiajun Liu; Eileen Liao; Lenore von Krusenstiern

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1479. doi:

ARVO Annual Meeting Abstract June 2021

Evaluation of a UNet Convolutional Neural Network (CNN) for Automatic Measurements of Ellipsoid Zone (EZ) Area and Photoreceptor Outer Segment (POS) Volume in X-Linked Retinitis Pigmentosa (xlRP)

Yi-Zhong Wang; Ashley Cao; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2134. doi:

ARVO Annual Meeting Abstract June 2021

Dark-adapted visual fields (DAVF) in patients with two disease-causing variants in USH2A

David G Birch; Lassana Samarakoon; Laura E Bocchino; B. Michele Melia; Jacque L Duncan; Allison Ayala; Isabelle Audo; Janet K Cheetham; Todd Durham; Alessandro Iannaccone; Mark E Pennesi; Katarina Stingl

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3241. doi:

Perspective April 2021

Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

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Todd A. Durham; Jacque L. Duncan; Allison R. Ayala; David G. Birch; Janet K. Cheetham; Frederick L. Ferris, III; Carel B. Hoyng; Mark E. Pennesi; José-Alain Sahel; for the Foundation Fighting Blindness Consortium Investigator Group
TAGS: blindness, rare diseases
Trans. Vis. Sci. Tech.. 2021; 10(4):23. doi: https://doi.org/10.1167/tvst.10.4.23

Articles October 2020

The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

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David G. Birch; Peiyao Cheng; Jacque L. Duncan; Allison R. Ayala; Maureen G. Maguire; Isabelle Audo; Janet K. Cheetham; Todd A. Durham; Abigail T. Fahim; Frederick L. Ferris, III; Elise Heon; Rachel M. Huckfeldt; Alessandro Iannaccone; Naheed W. Khan; Eleonora M. Lad; Michel Michaelides; Mark E. Pennesi; Katarina Stingl; Ajoy Vincent; Christina Y. Weng; for the Foundation Fighting Blindness Consortium Investigator Group
TAGS: electroretinography, visual acuity
Trans. Vis. Sci. Tech.. 2020; 9(11):9. doi: https://doi.org/10.1167/tvst.9.11.9

Includes: Supplemental Content

Articles June 2020

Quantification of RPE Changes in Choroideremia Using a Photoshop-Based Method

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Yi Zhai; Manlong Xu; Ioannis S. Dimopoulos; David G. Birch; Paul S. Bernstein; Jenny Holt; David Kirn; Peter Francis; Ian M. MacDonald
TAGS: choroideremia, bland-altman plot
Trans. Vis. Sci. Tech.. 2020; 9(7):21. doi: https://doi.org/10.1167/tvst.9.7.21

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

The natural history of choroideremia; progressive loss of visual function and retinal structure

David G Birch; Paul S Bernstein; Ian M MacDonald; Timothy Stout; David S Liao; Kirsten G Locke; Yi Zhai; Audra K Miller; Jenny Holt; Adia Jackson Leung; Somayeh Honarmand; Paul Jordan; Ulrich F O Luhmann; David H Kirn; Peter J Francis

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1908. doi:

ARVO Annual Meeting Abstract June 2020

Randomized clinical trial evaluating the pharmacodynamics of emixustat in subjects with macular atrophy secondary to Stargardt disease

Jeff Gregory; David G Birch; Ryo Kubota

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3190. doi:

ARVO Annual Meeting Abstract June 2020

Accelerating research in rare inherited retinal disorders (IRDs) through an international consortium

Janet K Cheetham; Allison Ayala; David G Birch; Jacque L Duncan; Todd Durham; Frederick L Ferris; Maureen Maguire; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3356. doi:

ARVO Annual Meeting Abstract June 2020

Baseline visual fields in the RUSH2A study: Associated factors and correlation with measures of disease severity

Jacque L Duncan; Wendi Liang; Isabelle S Audo; David G Birch; Joseph Carroll; Janet K. Cheetham; Laura R Erker; Frederick L Ferris; Elise Heon; Robert Hufnagel; Alessandro Iannaccone; Glenn J Jaffe; Christine N Kay; Maureen Maguire; Michel Michaelides; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3364. doi:

ARVO Annual Meeting Abstract June 2020

The Association between Rod Function and Low Luminance Acuity

Abigail christie; Renee A Denlar; Amy Thompson; Timothy Nguyen; Martin Klein; David G Birch; Karl G Csaky

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3990. doi:

ARVO Annual Meeting Abstract June 2020

Structure and function from en-face optical coherence tomography, fundus autofluorescence, and rod and cone perimetry in Stargardt disease

Brandon Winward; Vivienne C Greenstein; Donald C Hood; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1048. doi:

ARVO Annual Meeting Abstract June 2020

Measuring progression at the edge of dense macular scotomas in Stargardt disease

Etienne Schönbach; Rupert Strauss; Mohamed I. Ahmed; Jessica Janes; David G Birch; Artur Cideciyan; Janet Sunness; Xiangrong Kong; Beatriz E Munoz; Michael S Ip; Srinivas Sadda; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3189. doi:

ARVO Annual Meeting Abstract June 2020

Test-retest variability of static perimetry and microperimetry results from the RUSH2A study

Allison Ayala; Wendi Liang; David G Birch; Janet K Cheetham; Elvira N Chegarnov; Jacque L Duncan; Todd Durham; Frederick L Ferris; Eleonora M Lad; Maureen Maguire; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3342. doi:

ARVO Annual Meeting Abstract June 2020

Rod visual fields in comparison to the recommended functional and structural screening tests for patients treated with hydroxychloroquine

Yan Nuzbrokh; LUZ AMARO-QUIREZA; Donald C Hood; Stephen Tsang; Janet R Sparrow; David G Birch; Vivienne C. Greenstein

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1058. doi:

ARVO Annual Meeting Abstract June 2020

Evaluation of Two Convolutional Neural Network (CNN) Models for Automatic Segmentation of Retinal Layers from OCT images in Retinitis Pigmentosa (RP)

Yi-Zhong Wang; Wenxuan Wu; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1632. doi:

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Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

NIGHT study: natural progression of choroideremia

Changes of Fixation Stability and Fixation Location over 24 Months in Stargardt Disease: the ProgStar Study

Six Month Findings from a Phase 1/2 Clinical Study of Subretinal Gene Therapy Drug AGTC-501 for X-Linked Retinitis Pigmentosa Show Clinically Meaningful Improvement in Macular Sensitivity

Visual function improvements with BIIB112 (NSR-RPGR) in X-linked retinitis pigmentosa: XIRIUS (dose-expansion) and XOLARIS (natural disease progression) studies

Evaluation of a UNet Convolutional Neural Network (CNN) for Automatic Measurements of Ellipsoid Zone (EZ) Area and Photoreceptor Outer Segment (POS) Volume in X-Linked Retinitis Pigmentosa (xlRP)

Dark-adapted visual fields (DAVF) in patients with two disease-causing variants in USH2A

Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

Quantification of RPE Changes in Choroideremia Using a Photoshop-Based Method

The natural history of choroideremia; progressive loss of visual function and retinal structure

Randomized clinical trial evaluating the pharmacodynamics of emixustat in subjects with macular atrophy secondary to Stargardt disease

Accelerating research in rare inherited retinal disorders (IRDs) through an international consortium

Baseline visual fields in the RUSH2A study: Associated factors and correlation with measures of disease severity

The Association between Rod Function and Low Luminance Acuity

Structure and function from en-face optical coherence tomography, fundus autofluorescence, and rod and cone perimetry in Stargardt disease

Measuring progression at the edge of dense macular scotomas in Stargardt disease

Test-retest variability of static perimetry and microperimetry results from the RUSH2A study

Rod visual fields in comparison to the recommended functional and structural screening tests for patients treated with hydroxychloroquine

Evaluation of Two Convolutional Neural Network (CNN) Models for Automatic Segmentation of Retinal Layers from OCT images in Retinitis Pigmentosa (RP)

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