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Retina December 2022

Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations

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Artur V. Cideciyan; Samuel G. Jacobson; Malgorzata Swider; Alexander Sumaroka; Rebecca Sheplock; Arun K. Krishnan; Alexandra V. Garafalo; Karina E. Guziewicz; Gustavo D. Aguirre; William A. Beltran; Elise Heon
TAGS: best1 gene, eye, mutation, photoreceptors, retina, retinal cone, rod photoreceptors, vitelliform dystrophy, fovea centralis, vision
Invest. Ophthalmol. Vis. Sci.. 2022; 63(13):12. doi: https://doi.org/10.1167/iovs.63.13.12

ARVO Annual Meeting Abstract June 2022

Efficacy and safety of sepofarsen, an intravitreal RNA antisense oligonucleotide, for the treatment of CEP290 -associated Leber congenital amaurosis (LCA10): a randomized, double-masked, sham-controlled, Phase 3 study (ILLUMINATE)

Bart Peter Leroy; Katarina Stingl; Isabelle S Audo; Camiel J F Boon; Fernanda Belga O Porto; Michel Michaelides; Helene Dollfus; L. Ingeborgh van den Born; Lyubomyr M Lytvynchuk; Francesca Simonelli; Juliana M F Sallum; Robert K Koenekoop; Elise Heon; Stephen R Russell; Michael Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4536 – F0323. doi:

Genetics April 2022

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

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Zelia Corradi; Manar Salameh; Mubeen Khan; Elise Héon; Ketan Mishra; Rebekkah J. Hitti-Malin; Yahya AlSwaiti; Alice Aslanian; Eyal Banin; Brian P. Brooks; Wadih M. Zein; Robert B. Hufnagel; Susanne Roosing; Claire‐Marie Dhaenens; Dror Sharon; Frans P. M. Cremers; Alaa AlTalbishi
TAGS: abca4 gene, introns, mutation, stargardt's disease, proband, rna splicing, exons
Invest. Ophthalmol. Vis. Sci.. 2022; 63(4):20. doi: https://doi.org/10.1167/iovs.63.4.20

Includes: Supplemental Content

Articles February 2022

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1

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Mariana Flores Pimentel; Anna Heath; Michael J. Wan; Rowaida Hussein; Kate E. Leahy; Heather MacDonald; Erika Tavares; Cynthia VandenHoven; Katelyn MacNeill; Peter Kannu; Patricia C. Parkin; Elise Heon; Arun Reginald; Ajoy Vincent
TAGS: child, eye manifestations, lesch-nyhan syndrome, lisch nodules, neurofibromatosis 1, pediatrics, prevalence, molecular diagnostic techniques, cohort studies
Trans. Vis. Sci. Tech.. 2022; 11(2):10. doi: https://doi.org/10.1167/tvst.11.2.10

Retina December 2021

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

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Monika K. Grudzinska Pechhacker; Samuel G. Jacobson; Arlene V. Drack; Matteo Di Scipio; Ine Strubbe; Wanda Pfeifer; Jacque L. Duncan; Helene Dollfus; Nathalie Goetz; Jean Muller; Andrea L. Vincent; Tomas S. Aleman; Anupreet Tumber; Caroline Van Cauwenbergh; Elfride De Baere; Emma Bedoukian; Bart P. Leroy; Jason T. Maynes; Francis L. Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon
TAGS: natural history, phenotype, retinal degeneration, vision, cohort studies, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2021; 62(15):26. doi: https://doi.org/10.1167/iovs.62.15.26

ARVO Annual Meeting Abstract June 2021

Optic atrophy and inner retinal thinning in CACNA1F -related congenital stationary night blindness

Kate E Leahy; Tom Wright; Monika K Grudzinska Pechhacker; Isabelle Audo; Anupreet Tumber; Erika Tavares; Heather MacDonald; Jeff Locke; Cynthia VandenHoven; Christina Zeitz; Elise Heon; J Raymond Buncic; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1522. doi:

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. doi:

ARVO Annual Meeting Abstract June 2021

Visual field and Visual Acuity changes in the Natural History of Choroideremia

Emily Liu; Joshua Boyer; Rachel M. Huckfeldt; Elise Heon; Paul F Kenna; Isabelle Audo; Ruifang Sui; Elias I Traboulsi; Paul S Bernstein; Tim Stout; Kathy Reape; Daniel C Chung

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3506. doi:

ARVO Annual Meeting Abstract June 2021

Natural history study of visual function in patients with BBS1- and BBS10 -related retinal degeneration.

Monika Grudzinska Pechhacker; Samuel G Jacobson; Arlene V Drack; Matteo Di Scipio; Ine Stubbe; Jacque L Duncan; Helene Dollfus; Andrea L Vincent; Tomas S Aleman; Bart Leroy; Jason Maynes; Francis Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3284. doi:

ARVO Annual Meeting Abstract June 2021

Subretinal gene replacement rescues retinal phenotype in BBS10 mouse

Arlene V Drack; Angela Mahoney; Sajag Bhattarai; Sara Mayer; Jacintha Thomas; Poppy Datta; Ying Hsu; Janelle Garrison; Elise Heon; Charles Searby; Luk H Vandenberghe; Seongjin Seo; Val Sheffield

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1178. doi:

ARVO Annual Meeting Abstract June 2021

ABCA4 c.859-25A>G, a frequent Palestinian founder mutation associated with retinal dystrophy, results in multiple splice defects

Manar Salameh; Zelia Corradi; Mubeen Khan; Ajoy Vincent; Elise Heon; Rebekkah Hitti-Malin; Yahya AlSwaiti; Eyal Banin; Claire-Marie Dhaenens; Dror Sharon; Alaa AlTalbishi; Frans P.M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):6. doi:

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

Genetics August 2020

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

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Matteo Di Scipio; Erika Tavares; Shriya Deshmukh; Isabelle Audo; Kit Green-Sanderson; Yuliya Zubak; Fayçal Zine-Eddine; Alexander Pearson; Anjali Vig; Chen Yu Tang; Antonio Mollica; Jonathan Karas; Anupreet Tumber; Caberry W. Yu; Gail Billingsley; Michael D. Wilson; Christina Zeitz; Elise Héon; Ajoy Vincent
TAGS: genetic pedigree, introns, phenotype, retinal dystrophies, reverse transcriptase polymerase chain reaction, rna splicing, whole genome sequencing
Invest. Ophthalmol. Vis. Sci.. 2020; 61(10):36. doi: https://doi.org/10.1167/iovs.61.10.36

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Small Molecule Proteostasis Regulator Corrects Cone Photoreceptor Pathology in Retinal Organoids

Heike Kroeger; Wei-Chieh Chiang; Julia Grandjean; Daphne Bindels; Rebecca Mastey; Jennifer Okál'ová; Elise Heon; Evan Powers; Jeffery kelly; Neil Grimsey; Joseph Carroll; Luke Wiseman; Jonathan Lin

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):868. doi:

ARVO Annual Meeting Abstract June 2020

Retinal degeneration in BBS10 mice is ameliorated by subretinal gene replacement

Arlene V Drack; Sajag Bhattarai; Jacintha Thomas; Elliot Stalter; Poppy Datta; ying Hsu; Janelle Garrison; Charles Searby; Luk H Vandenberghe; Elise Heon; Seongjin Seo; Val C Sheffield

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1914. 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

Natural history study of visual function in patients with BBS1 and BBS10 -related Bardet-Biedl syndrome.

Monika Grudzinska Pechhacker; Samuel G Jacobson; Ine Strubbe; Jacque L Duncan; Arlene V Drack; Andrea L Vincent; Tomas Aleman; Caroline Van Cauwenbergh; Elfride De Baere; Helene Dollfus; Nathalie Goetz; Bart Peter Leroy; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4463. doi:

ARVO Annual Meeting Abstract June 2020

Discovery of novel disease-causing mutations in inherited retinal dystrophies – an application to retinitis pigmentosa

Caberry W. Yu; Erika Tavares; Vaishnavi Batmanabane; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4475. doi:

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

ARVO Annual Meeting Abstract July 2019

Transient pupillary light reflexes driven by foveal cones in CEP290- or in NPHP5- associated LCA-ciliopathies

Arun kumar Krishnan; Jason Charng; Samuel G Jacobson; Alejandro J Roman; Alexandra Garafalo; Alexander Sumaroka; Malgorzata Swider; Evelyn Semenov; Rebecca Sheplock; Elise Heon; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1833. doi:

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Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations

Efficacy and safety of sepofarsen, an intravitreal RNA antisense oligonucleotide, for the treatment of CEP290 -associated Leber congenital amaurosis (LCA10): a randomized, double-masked, sham-controlled, Phase 3 study (ILLUMINATE)

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Optic atrophy and inner retinal thinning in CACNA1F -related congenital stationary night blindness

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

Visual field and Visual Acuity changes in the Natural History of Choroideremia

Natural history study of visual function in patients with BBS1- and BBS10 -related retinal degeneration.

Subretinal gene replacement rescues retinal phenotype in BBS10 mouse

ABCA4 c.859-25A>G, a frequent Palestinian founder mutation associated with retinal dystrophy, results in multiple splice defects

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

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

Small Molecule Proteostasis Regulator Corrects Cone Photoreceptor Pathology in Retinal Organoids

Retinal degeneration in BBS10 mice is ameliorated by subretinal gene replacement

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

Natural history study of visual function in patients with BBS1 and BBS10 -related Bardet-Biedl syndrome.

Discovery of novel disease-causing mutations in inherited retinal dystrophies – an application to retinitis pigmentosa

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

Transient pupillary light reflexes driven by foveal cones in CEP290- or in NPHP5- associated LCA-ciliopathies

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