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ARVO Annual Meeting Abstract June 2024

Early-onset sub-RPE deposits in late-onset retinal degeneration (L-ORD) caused by the c.489C>G (p.S163R) founder variant in C1QTNF5

Artur V Cideciyan; Randa TH Li; Alejandro J Roman; Alexander Sumaroka; Chloe M Stanton; Malgorzata Swider; Alexandra V Garafalo; Elise Heon; Ajoy Vincent; Alan F Wright; Roly Megaw; Tomas S Aleman; Andrew C Browning; Baljean Dhillon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1385.

ARVO Annual Meeting Abstract June 2024

Cone Mosaic in Children Undergoing Gene Therapy for RPE65 -Associated Leber’s Congenital Amaurosis

Miguel Nicolas Cruz Pimentel; Alaa Abdulmalik Tayyib; Peter J. Kertes; Rajeev Hemant Muni; Elise Heon; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3117.

ARVO Annual Meeting Abstract June 2024

Structural and Functional Retinal Phenotype in Mucopolysaccharidosis Type I Hurler and I Hurler-Scheie

Deepika C Parameswarappa; Anupreet Tumber; Stephanie N Kletke; Thomas Wright; Alaa Abdulmalik Tayyib; Eoghan Millar; Elise Heon; Asim Ali; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6034.

Retina May 2024

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

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Rachael C. Heath Jeffery; Jennifer A. Thompson; Johnny Lo; Enid S. Chelva; Sean Armstrong; Jose S. Pulido; Rebecca Procopio; Andrea L. Vincent; Lorenzo Bianco; Maurizio Battaglia Parodi; Lucia Ziccardi; Giulio Antonelli; Lucilla Barbano; João P. Marques; Sara Geada; Ana L. Carvalho; Wei C. Tang; Choi M. Chan; Camiel J. F. Boon; Jonathan Hensman; Ta-Ching Chen; Chien-Yu Lin; Pei-Lung Chen; Ajoy Vincent; Anupreet Tumber; Elise Heon; John R. Grigg; Robyn V. Jamieson; Elisa E. Cornish; Benjamin M. Nash; Shyamanga Borooah; Lauren N. Ayton; Alexis Ceecee Britten-Jones; Thomas L. Edwards; Jonathan B. Ruddle; Abhishek Sharma; Rowan G. Porter; Tina M. Lamey; Terri L. McLaren; Samuel McLenachan; Danial Roshandel; Fred K. Chen
TAGS: genetics, phenotype, retinal dystrophies, fundus autofluorescence imaging, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2024; 65(5):22. https://doi.org/10.1167/iovs.65.5.22

Includes: Supplemental Content

Retina December 2023

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

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Randa T. H. Li; Alejandro J. Roman; Alexander Sumaroka; Chloe M. Stanton; Malgorzata Swider; Alexandra V. Garafalo; Elise Heon; Ajoy Vincent; Alan F. Wright; Roly Megaw; Tomas S. Aleman; Andrew C. Browning; Baljean Dhillon; Artur V. Cideciyan
TAGS: gene editing, photoreceptors, retina, retinal degeneration, tissue degeneration, diagnostic imaging, retinal cone, fovea centralis, natural history, eye
Invest. Ophthalmol. Vis. Sci.. 2023; 64(15):33. https://doi.org/10.1167/iovs.64.15.33

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Characterization of the Retinal Phenotype in PYGM -related McArdle Disease

Alaa Tayyib; Rowaida Hussein; Anupreet Tumber; Kashif Ahmed; Erika Tavares; Chantal Morel; Graeme Nimmo; Mark Tarnopolsy; Elise Heon; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1555.

ARVO Annual Meeting Abstract June 2023

Validating Patient-Reported Outcome Measures for Adolescents with Inherited Retinal Diseases

Kavin Selvan; Rebhi Abuzaitoun; Maria Fernanda Abalem; Ajoy Vincent; Chris A. Andrews; Gabrielle D. Lacy; Rafid Farjo; Karissa Kao; Krystal Kao; Gislin Dagnelie; David C. Musch; K. Thiran Jayasundera; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5050.

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. 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.

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. 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. 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. https://doi.org/10.1167/iovs.62.15.26

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.

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.

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.

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

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.

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.

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

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. https://doi.org/10.1167/iovs.61.10.36

Includes: Supplemental Content

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Early-onset sub-RPE deposits in late-onset retinal degeneration (L-ORD) caused by the c.489C>G (p.S163R) founder variant in C1QTNF5

Cone Mosaic in Children Undergoing Gene Therapy for RPE65 -Associated Leber’s Congenital Amaurosis

Structural and Functional Retinal Phenotype in Mucopolysaccharidosis Type I Hurler and I Hurler-Scheie

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

Characterization of the Retinal Phenotype in PYGM -related McArdle Disease

Validating Patient-Reported Outcome Measures for Adolescents with Inherited Retinal Diseases

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

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

Subretinal gene replacement rescues retinal phenotype in BBS10 mouse

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.

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

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