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Research Opportunities October 2024

Current and Future Directions in Developing Effective Treatments for PRPH2- Associated Retinal Diseases: A Workshop Report

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Radha Ayyagari; Shyamanga Borooah; Todd Durham; Claire Gelfman; Angela Bowman
TAGS: genes, mutation, retinal diseases, blindness, vision
Trans. Vis. Sci. Tech.. 2024; 13(10):16. https://doi.org/10.1167/tvst.13.10.16

Retina October 2024

Endpoints and Design for Clinical Trials in USH2A -Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study

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Maureen G. Maguire; David G. Birch; Jacque L. Duncan; Allison R. Ayala; Lauren N. Ayton; Janet K. Cheetham; Peiyao Cheng; Todd A. Durham; Frederick L. Ferris, III; Carel B. Hoyng; Rachel M. Huckfeldt; Glenn J. Jaffe; Christine Kay; Eleonora M. Lad; Bart P. Leroy; Wendi Liang; Lee S. McDaniel; Michele Melia; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel; Lassana Samarakoon; on behalf of the REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: cohort studies, eye, natural history, outcome measures, retinal degeneration, sample size, surrogate endpoints, vision, united states food and drug administration, perimetry
Trans. Vis. Sci. Tech.. 2024; 13(10):15. https://doi.org/10.1167/tvst.13.10.15

Includes: Supplemental Content

New Developments in Vision Research August 2024

Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12 -Associated Inherited Retinal Degeneration

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Silvia Cerolini; Jean Bennett; Bart P. Leroy; Todd Durham; Courtney Coates; Mathew T. Pletcher; Sue Lacey; Tomas S. Aleman
TAGS: gene therapy, outcome measures, retinal degeneration, science, vision
Trans. Vis. Sci. Tech.. 2024; 13(8):17. https://doi.org/10.1167/tvst.13.8.17

Retina June 2024

Self-Reported Functional Vision in USH2A -Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

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Bela Parekh; Jacque L. Duncan; Lassana Samarakoon; Michele Melia; Maria Fernanda Abalem; Chris A. Andrews; Isabelle Audo; Allison R. Ayala; Chris Bradley; Janet K. Cheetham; Gislin Dagnelie; Todd A. Durham; Rachel M. Huckfeldt; Gabrielle D. Lacy; Brett Malbin; Michel Michaelides; David C. Musch; Nicholas Peck-Dimit; Katarina Stingl; Christina Y. Weng; Alex Z. Zmejkoski; K. Thiran Jayasundera; for the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: michigan, questionnaires, retinal degeneration, self-report, vision, vision tests
Invest. Ophthalmol. Vis. Sci.. 2024; 65(6):5. https://doi.org/10.1167/iovs.65.6.5

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

A patient-driven, multi-stakeholder, collaborative approach to address IRD endpoint challenges: the RDH12 example

Silvia Cerolini; Jean Bennett; Bart Peter Leroy; Tomas S Aleman; Avril Daly; Todd Durham; Courtney Coates; Mathew Pletcher; Sue Lacey

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):795.

Retina February 2023

Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report

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Shannon E. Boye; Todd Durham; Amy Laster; Claire M. Gelfman; José-Alain Sahel
TAGS: blindness, genes, genetics, myosin viia, natural history, outcome measures, pathology, research personnel, retina, vision
Trans. Vis. Sci. Tech.. 2023; 12(2):2. https://doi.org/10.1167/tvst.12.2.2

ARVO Annual Meeting Abstract June 2022

Generation of qualitative evidence to support the content validity of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis

Christine Nichols Kay; Isabelle S Audo; Helena Bradley; Melissa Barclay; Joel Sims; Kieran Boparai; Francesco Patalano; Christel Naujoks; Claudio Spera; Daniel Viriato; M Dominik Fischer; Jane Green; Todd Durham; Nicola Williamson; Judit Banhazi

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1711 – F0029.

ARVO Annual Meeting Abstract June 2022

Psychometric validation of patient-reported outcome (PRO) and observer-reported outcome (ObsRO) measures in Retinitis Pigmentosa and Leber Congenital Amaurosis

Isabelle S Audo; Nicola Williamson; Melissa Barclay; Joel Sims; Kieran Boparai; Francesco Patalano; Christel Naujoks; Claudio Spera; Judit Banhazi; Paul O’Brien; Christine Kay; Jane Green; Todd Durham; Helena Bradley; M Dominik Fischer

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2663.

ARVO Annual Meeting Abstract June 2022

Visual acuity and full-field stimulus thresholds (FST) over 2 years in the RUSH2A study: annual rates of change from mixed effects modeling

Peiyao Cheng; David G Birch; Jacque L Duncan; Frederick L Ferris; Maureen G Maguire; Allison R. Ayala; Janet K Cheetham; Todd Durham; Abigail T Fahim; Rachel M Huckfeldt; Michel Michaelides; Mark E Pennesi; Jose Alain Sahel; Katarina Stingl; Ajoy Vincent; Christina Y Weng

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4480 – F0267.

Retina March 2022

The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene

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David G. Birch; Lassana Samarakoon; Michele Melia; Jacque L. Duncan; Allison R. Ayala; Isabelle Audo; Janet K. Cheetham; Todd A. Durham; Alessandro Iannaccone; Mark E. Pennesi; Katarina Stingl; for the Foundation Fighting Blindness Consortium Investigator Group
TAGS: genes, retinal degeneration, rod photoreceptors, visual fields, illness length
Invest. Ophthalmol. Vis. Sci.. 2022; 63(3):17. https://doi.org/10.1167/iovs.63.3.17

ARVO Annual Meeting Abstract June 2021

Auditory and olfactory findings from the Rate of Progression of USH2A -related Retinal Degeneration (RUSH2A) study

Alessandro Iannaccone; Carmen C. Brewer; Peiyao Cheng; Jacque L Duncan; Maureen G Maguire; Isabelle Audo; Allison Ayala; Paul S Bernstein; Gavin M. bidelman; Janet K Cheetham; Richard L. Doty; Todd Durham; Robert B Hufnagel; Mark H. Myers; Wadih M Zein

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1537.

ARVO Annual Meeting Abstract June 2021

Qualitative interviews with patients and caregivers regarding visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life in RPE65-related Retinitis Pigmentosa and Leber Congenital Amaurosis

Christine Kay; Nicola Williamson; Helena Bradley; Melissa Barclay; Joel Sims; Rob Arbuckle; Claudio Spera; Christel Naujoks; Nuzhat Afroz; M Dominik Fischer; Isabelle Audo; Todd Durham; Francesco Patalano; Judit Banhazi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3589.

ARVO Annual Meeting Abstract June 2021

Qualitative exploration of patient and caregiver experiences of visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life associated with Retinitis Pigmentosa and Leber Congenital Amaurosis in Germany and France

Isabelle Audo; Nicola Williamson; Helena Bradley; Melissa Barclay; Joel Sims; Rob Arbuckle; Francesco Patalano; Claudio Spera; Christel Naujoks; Nuzhat Afroz; M Dominik Fischer; Todd Durham; Judit Banhazi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3585.

ARVO Annual Meeting Abstract June 2021

Patient-reported visual functioning in persons with bi-allelic USH2A variants

Elise Heon; B. Michele Melia; Laura E Bocchino; Jacque L Duncan; Allison Ayala; Chris Bradley; Isabelle Audo; Janet K Cheetham; Gislin Dagnelie; Todd Durham; Carel Hoyng; Nieraj Jain; Thiran Jayasundera; Mark E Pennesi; Christina Y Weng

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3541.

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.

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. 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. https://doi.org/10.1167/tvst.9.11.9

Includes: Supplemental Content

New Developments in Vision Research July 2020

Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene

PDF

Francesca Sofia; Silvia Cerolini; Todd Durham
TAGS: blindness, family, genes, hereditary retinal dystrophy, mutation, natural history, gene therapy, retina, retinal dystrophies, disease progression
Trans. Vis. Sci. Tech.. 2020; 9(8):30. https://doi.org/10.1167/tvst.9.8.30

Includes: Supplemental Content

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.

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.

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Current and Future Directions in Developing Effective Treatments for PRPH2- Associated Retinal Diseases: A Workshop Report

Endpoints and Design for Clinical Trials in USH2A -Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study

Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12 -Associated Inherited Retinal Degeneration

Self-Reported Functional Vision in USH2A -Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

A patient-driven, multi-stakeholder, collaborative approach to address IRD endpoint challenges: the RDH12 example

Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report

Generation of qualitative evidence to support the content validity of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis

Psychometric validation of patient-reported outcome (PRO) and observer-reported outcome (ObsRO) measures in Retinitis Pigmentosa and Leber Congenital Amaurosis

Visual acuity and full-field stimulus thresholds (FST) over 2 years in the RUSH2A study: annual rates of change from mixed effects modeling

The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene

Auditory and olfactory findings from the Rate of Progression of USH2A -related Retinal Degeneration (RUSH2A) study

Qualitative interviews with patients and caregivers regarding visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life in RPE65-related Retinitis Pigmentosa and Leber Congenital Amaurosis

Qualitative exploration of patient and caregiver experiences of visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life associated with Retinitis Pigmentosa and Leber Congenital Amaurosis in Germany and France

Patient-reported visual functioning in persons with bi-allelic USH2A variants

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

Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene

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

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

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