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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

ARVO Annual Meeting Abstract June 2024

Visual acuity outcomes by causative mutation in Leber hereditary optic neuropathy: Analysis of historical data from CRS-2

Judith van Everdingen; Bart Peter Leroy; Patrick Yu-Wai-Man; Maciej Krawczynski; Costanza Lamperti; Valerio Carelli; Xavier Llòria; Thomas Klopstock

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):OD11.

ARVO Annual Meeting Abstract June 2024

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Imran H Yusuf; Richard Caswell; Stephen H Tsang; Carmen Ayuso; Dror Sharon; Juliana M F Sallum; Carel C B Hoyng; Petra Liskova; Ajoy Vincent; Madhavan Jagadeesan; Bart Peter Leroy; Jose Millán; Smaragda Kamakari; Andrew Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2132.

ARVO Annual Meeting Abstract June 2024

A novel RPE65 -related dominant retinopathy caused by founder variant c.1555G>A p.(Glu519Lys) enriched in Belgian patients with a recognizable pattern dystrophy spectrum

Eline Van Vooren; Filip Van Den Broeck; Marieke De Bruyne; Quinten Mahieu; Sheetal Uppal; Eugenia Poliakov; T. Michael Redmond; Julie De Zaeytijd; Bart Peter Leroy; Miriam Bauwens; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1517.

ARVO Annual Meeting Abstract June 2024

Natural Course of Atrophy Growth Rate on Fundus Autofluorescence in a Large Cohort of Stargardt Patients

Jeroen Adrianus Antonius Hendrikus Pas; Catherina Li; Filip Van Den Broeck; Patty P.A. Dhooge; Julie De Zaeytijd; Bart Peter Leroy; Rob Collin; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3828.

ARVO Annual Meeting Abstract June 2024

Real-world safety and effectiveness of voretigene neparvovec: Year 3 interim results from the PERCEIVE study

M Dominik Fischer; Francesca Simonelli; Isabelle S Audo; Bart Peter Leroy; Line Kessel; Joao Pedro Marques; Mirjana Bjelos; James Bainbridge; Manar Aoun; Rainer Maier; Rehna Khan; Andreas Clemens; Frank G Holz

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3290.

ARVO Annual Meeting Abstract June 2024

A multi-omics approach increases the diagnostic yield ‘beyond the exome’ in unsolved patients with inherited eye diseases

Miriam Bauwens; Marta Del Pozo Valero; Marieke De Bruyne; Filip Van Den Broeck; Quinten Mahieu; Stijn Van de Sompele; Audrey Meunier; Thomy De Ravel; Joke Ruys; Mattias Van Heetvelde; Irina Balikova; Sascha Vermeer; Julie De Zaeytijd; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4939.

ARVO Annual Meeting Abstract June 2024

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Manon Bouckaert; Kyana Van Acker; Maria Georgiou; Filip Van Den Broeck; Edith De Bruycker; Alfredo Dueñas Rey; Emma Delanote; Hanne Lenaerts; Melita Kaltak; Elfride De Baere; Katrien Remaut; Louis Delhaye; Julie De Zaeytijd; Bart Peter Leroy; Majlinda Lako; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5321.

ARVO Annual Meeting Abstract June 2024

Retinal Degeneration Associated With RPGRIP1: A Phenotypic Spectrum, and Genotype–Phenotype Correlation.

Hind Almushattat; Michalis Georgiou; Jonathan Hensman; Filip Van Den Broeck; Carel C B Hoyng; Alberta Thiadens; L. Ingeborgh van den Born; Maria Genderen; Bart Peter Leroy; Michel Michaelides; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5121.

ARVO Annual Meeting Abstract June 2024

Safety and expression following subretinal administration of AAV.ABCA4.intein vectors in the non-human primate retina

Bart Peter Leroy; Rita Ferla; Naveed Shams; Muhammad Ali Memon; Alberto Auricchio

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6097.

ARVO Annual Meeting Abstract June 2024

Phenotypic Variability and Evolution of MFSD8 -related Retinal Disease

Manon Van Haute; Evangelia S. Panagiotou; Filip Van Den Broeck; Hwei Wuen Chan; Marieke De Bruyne; Sophie Walraedt; Miriam Bauwens; Elfride De Baere; Bart Peter Leroy

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6031.

ARVO Annual Meeting Abstract June 2023

Leber Hereditary Optic Neuropathy (LHON): Online medical education can significantly improve physicians’ diagnostic competence and confidence, and improve therapy knowledge

Siggi Trier; Gillian Griffith; Karen Reid; Patrick Yu-Wai-Man; Valerio Carelli; Thomas Klopstock; Bart Peter Leroy; Nancy J Newman; Catherine Vignal-Clermont

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4079.

ARVO Annual Meeting Abstract June 2023

Results of Belgian patients with RPE65 -related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec

Leen Hertens; Caroline Van Cauwenbergh; Filip Van den Broeck; Julie Sambaer; Manon Van Haute; Pieter Hertens; Elfride De Baere; Geraldine Accou; Fanny Nerinckx; Bart Peter Leroy

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):762.

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.

ARVO Annual Meeting Abstract June 2023

Efficacy of carbonic anhydrase inhibitors on cystoid macular lesions and visual acuity in patients with X-linked retinoschisis

Jonathan Hensman; Leo Hahn; Rosalie Diederen; Jacoline ten Brink; Ralph Florijn; Arthur Bergen; Ine Strubbe; Pam Heutinck; Maria M van Genderen; Ingeborgh Van Den Born; Alberta A H J Thiadens; Carel C B Hoyng; Bart Peter Leroy; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1550.

ARVO Annual Meeting Abstract June 2023

Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

Marta Del Pozo Valero; Miriam Bauwens; Marieke De Bruyne; Filip Van den Broeck; Stephanie Dulst; Quinten Quinten; Audrey Meunier; Thomy de Ravel; Joke Ruys; Mattias Van Heetvelde; Irina Balikova; Sascha Vermeer; Julie De Zaeytijd; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2852.

ARVO Annual Meeting Abstract June 2023

A systematic approach to characterize the contribution of 5’UTR variation to inherited retinal disease

Alfredo Dueñas Rey; Manon Bouckaert; Marta Del Pozo Valero; Marieke De Bruyne; Mattias Van Heetvelde; Jamie Ellingford; Gavin Arno; Andrew R Webster; Carmen Ayuso; Carlo Rivolta; Bart Peter Leroy; Miriam Bauwens; Julie De Zaeytijd; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2851.

ARVO Annual Meeting Abstract June 2022

Long-term safety and efficacy of sepofarsen in a Ph1b/2 INSIGHT extension trial in CEP290 -associated Leber congenital amaurosis (LCA10)

Stephen R Russell; Arlene V Drack; Artur V Cideciyan; Samuel G. Jacobson; Bart P Leroy; Caroline Van Cauwenbergh; Michael Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):453.

ARVO Annual Meeting Abstract June 2022

The evolution and spectrum of structural changes in X-linked retinoschisis on retinal imaging

Leo Hahn; Mary J. van Schooneveld; Ralph J. Florijn; Jacoline B ten Brink; Ine Strubbe; Magda M. Meester-Smoor; Alberta A H J Thiadens; Roselie M.H. Diederen; Caroline C W Klaver; Carel C B Hoyng; Mies M. van Genderen; Bart P Leroy; Arthur A. Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3319 – F0128.

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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

Visual acuity outcomes by causative mutation in Leber hereditary optic neuropathy: Analysis of historical data from CRS-2

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

A novel RPE65 -related dominant retinopathy caused by founder variant c.1555G>A p.(Glu519Lys) enriched in Belgian patients with a recognizable pattern dystrophy spectrum

Natural Course of Atrophy Growth Rate on Fundus Autofluorescence in a Large Cohort of Stargardt Patients

Real-world safety and effectiveness of voretigene neparvovec: Year 3 interim results from the PERCEIVE study

A multi-omics approach increases the diagnostic yield ‘beyond the exome’ in unsolved patients with inherited eye diseases

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Retinal Degeneration Associated With RPGRIP1: A Phenotypic Spectrum, and Genotype–Phenotype Correlation.

Safety and expression following subretinal administration of AAV.ABCA4.intein vectors in the non-human primate retina

Phenotypic Variability and Evolution of MFSD8 -related Retinal Disease

Leber Hereditary Optic Neuropathy (LHON): Online medical education can significantly improve physicians’ diagnostic competence and confidence, and improve therapy knowledge

Results of Belgian patients with RPE65 -related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec

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

Efficacy of carbonic anhydrase inhibitors on cystoid macular lesions and visual acuity in patients with X-linked retinoschisis

Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

A systematic approach to characterize the contribution of 5’UTR variation to inherited retinal disease

Long-term safety and efficacy of sepofarsen in a Ph1b/2 INSIGHT extension trial in CEP290 -associated Leber congenital amaurosis (LCA10)

The evolution and spectrum of structural changes in X-linked retinoschisis on retinal imaging

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