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ARVO Annual Meeting Abstract June 2025

Repeatability of Best Corrected Visual Acuity (BCVA) and Ellipsoid Zone (EZ) width in eyes with Retinitis Pigmentosa (RP)

Zainab Rustam; Guoshu Kong; Folahan Adesola Ibukun; David G Birch; Ian Han; Rachel M Huckfeldt; Laura Kuehlewein; Kristina Pfau; Sandeep Grover; Lea D Bennett; Nieraj Jain; Kaitlyn A Sapoznik; Shivani Kochhar; Michael Lien; Aliya Siddiqui; Joseph Carroll; Michel Michaelides; Suzanne Yzer; Robert K Koenekoop; Tomas S Aleman; Byron L Lam; Richard N Sather; Nancy Aychoua; Sina Farsiu; Kevin Choy

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3158.

ARVO Annual Meeting Abstract June 2025

Antisense therapy improves photoreceptor cell function and halts Müller activation in USH1C mice

Bhagwat V Alapure; Krista R. Malley; Dongjoon Kim; Robert K Koenekoop; Jennifer J Lentz

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5953.

ARVO Annual Meeting Abstract June 2025

Antisense verses gene replacement therapy for USH1C

Jennifer J Lentz; Bhagwat V Alapure; Dongjoon Kim; Sanford L. Boye; Shannon Elizabeth Boye; Wadih M Zein; Michel Michaelides; Maria Reinoso; Robert K Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5945.

ARVO Annual Meeting Abstract June 2025

RetiGene: A Comprehensive Gene Atlas for Inherited Retinal Diseases (IRDs)

Elifnaz Celik; Mathieu Quinodoz; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Gema García Garcia; Virginie Gisèle Peter; Marianthi Karali; Nina Schneider; José M. Millán; Robert K Koenekoop; Frauke Coppieters; Carmel Toomes; Chris Ingelhearn; Vasiliki Kalatzis; Beatrice Bocquet; Dror Sharon; Sandro Banfi; Carmen Ayuso; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5125.

ARVO Annual Meeting Abstract June 2025

Factors associated with microperimetry false positive responses in patients with retinitis pigmentosa (RP)

Rachel M Huckfeldt; Yanzhao WANG; Ahmad al-Moujahed; Kirill Zaslavsky; Hossein Ameri; Nancy Aychoua; Artur V Cideciyan; Thales A C de Guimarães; Jacque L Duncan; Sandeep Grover; Folahan Ibukun; Nieraj Jain; Robert K Koenekoop; Byron L Lam; Michel Michaelides; Kristina Pfau; Zainab Rustam; Peter A Campochiaro; Xiangrong Kong

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1941.

ARVO Annual Meeting Abstract June 2025

Natural History of Visual Loss in USH1C

Madelaine Pickens; Dongjoon Kim; Goreth Leite; Glenda Vargas; Thales A C de Guimarães; Wadih M Zein; Michel Michaelides; Maria Reinoso; Robert K Koenekoop; Jennifer J Lentz

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3130.

ARVO Annual Meeting Abstract June 2025

Safety and efficacy of ultevursen for the treatment of USH2A -associated retinitis pigmentosa

Paul Yang; Isabelle Audo; David G Birch; Thiran Jayasundera; Isabelle Meunier; Rachel M Huckfeldt; Robert K Koenekoop; Divya D'Souza; Ursula Garczarek; Michael Schwartz; Zuhal Butuner

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):6391.

ARVO Annual Meeting Abstract June 2025

Artificial Intelligence in Pediatric Ophthalmology: A Neural Network Model for Predicting Keratoconus in LCA with AIPL1 Mutations

Daniel R. Chow; Raheem Remtulla; Glenda Vargas; Goreth Leite; Robert K Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1470.

ARVO Annual Meeting Abstract June 2025

Identification and Validation of Intronic Variants in Patients affected with Inherited Retinal Diseases (IRDs) using Minigene Assay.

Hafiz Muhammad Jafar Hussain; Meng Wang; Yumei Li; Paul Yang; Molly Marra; Mark E Pennesi; Fernanda Belga Ottoni Porto; Robert K Koenekoop; Irma Lopez; Ruifang Sui; Michael B Gorin; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1842.

ARVO Annual Meeting Abstract June 2025

Endogenous Levels of N -acetylcysteine in Human Plasma in the NAC Attack Study

Alyssa C. Bonnell; Jennifer R Chao; Yanzhao WANG; Hailey Ahrens; Hossein Ameri; Nancy Aychoua; Theo de Boer; Abby T Fahim; Dana Frank; Alexandra Viviann Garafalo; Sandeep Grover; Rachel M Huckfeldt; Robert B Hufnagel; Folahan Adesola Ibukun; Robert K Koenekoop; Jennifer I Lim; Mary McCormick; Zainab Rustam; Richard N Sather; Aliya Siddiqui; Peter A Campochiaro; Xiangrong Kong

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3150.

ARVO Annual Meeting Abstract June 2025

RNA-based therapy in Leber congenital amaurosis type 10 (LCA10): key lessons learned from the randomized double-masked, sham-controlled Phase 3 study of sepofarsen

Bart Peter Leroy; Katarina Stingl; Isabelle Audo; Camiel J.F. Boon; Fernanda Belga Ottoni Porto; Michel Michaelides; Helene DOLLFUS; Ingeborgh van den Born; Lyubomyr M Lytvynchuk; Francesca Simonelli; Juliana M F Sallum; Robert Koenekoop; Elise Heon; Stephen R Russell; Ursula Garczarek; Zuhal Butuner; Mike Schwartz

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):6395.

ARVO Annual Meeting Abstract June 2025

Freiburg Vision Test (FrACT) for assessing visual acuity in Leber congenital amaurosis type 10 (LCA10) patients

Jasleen Kaur Jolly; Michael Bach; Bart Peter Leroy; Katarina Stingl; Isabelle Audo; Camiel J.F. Boon; Fernanda Belga Ottoni Porto; Michel Michaelides; Helene DOLLFUS; Ingeborgh van den Born; Lyubomyr M Lytvynchuk; Francesca Simonelli; Juliana M F Sallum; Robert Koenekoop; Elise Heon; Stephen R Russell; Ursula Garczarek; Mike Schwartz

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):6393.

Genetics June 2025

Expansion of the ABCA4 -Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

PDF

Daan M. Panneman; Rebekkah J. Hitti-Malin; Martin McKibbin; Suzanne E. de Bruijn; Erica G. M. Boonen; Andrea L. Vincent; Glenda Vargas; Jordi Corominas; Galuh Astuti; Christian Gilissen; Elfride De Baere; Chris F. Inglehearn; Susanne Roosing; Robert K. Koenekoop; Frans P. M. Cremers
TAGS: abca4 gene, retinal diseases, retinal dystrophies, genes, proband, whole genome sequencing
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):19. https://doi.org/10.1167/iovs.66.6.19

Includes: Supplemental Content

Immunology and Microbiology February 2025

Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

PDF

Lude Moekotte; Joke H. de Boer; Sanne Hiddingh; Aafke de Ligt; Xuan-Thanh-An Nguyen; Carel B. Hoyng; Chris F. Inglehearn; Martin McKibbin; Tina M. Lamey; Jennifer A. Thompson; Fred K. Chen; Terri L. McLaren; Alaa AlTalbishi; Daan M. Panneman; Erica G. M. Boonen; Sandro Banfi; Béatrice Bocquet; Isabelle Meunier; Elfride De Baere; Robert Koenekoop; Monika Ołdak; Carlo Rivolta; Lisa Roberts; Raj Ramesar; Rasa Strupaitė-Šileikienė; Susanne Kohl; G. Jane Farrar; Marion van Vugt; Jessica van Setten; Susanne Roosing; L. Ingeborgh van den Born; Camiel J. F. Boon; Maria M. van Genderen; Jonas J. W. Kuiper
TAGS: complement system proteins, hereditary retinal dystrophy, plasma, proteins, genotype, proteome, genes
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):55. https://doi.org/10.1167/iovs.66.2.55

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

USH1C Vision and Balance Natural History Studies and Approach to Sharing Clinical Data

Jennifer J Lentz; Inga Kristaponyte; Grant Rauterkus; Dongjoon Kim; Micah Klumpp; Jonathan Crabtree; Anup Mahurkar; Ronna Hertzano; Dominik Fischer; Moises A. Arriaga; Maria Reinoso; Wadih M Zein; Robert K Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3096.

ARVO Annual Meeting Abstract June 2023

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

Daan Panneman; Susanne Roosing; Erica G.M Boonen; Chris Inglehearn; Martin McKibbin; Elfride De Baere; Thomy de Ravel; Sascha Vermeer; Andrea L Vincent; Robert K Koenekoop; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4518.

ARVO Annual Meeting Abstract June 2022

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Kim C. Worley; Kristy Lee; Radha Ayyagari; Michael E Cheetham; Elfride De Baere; KERRY GOETZ; Robert K Koenekoop; Linyan Meng; MAXENCE NACHURY; Paul A Sieving; Lori S Sullivan; Christina Zeitz; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):624 – A0339.

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 June 2021

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

PDF

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. https://doi.org/10.1167/iovs.62.7.27

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Alfredo Dueñas Rey; Muhammad Imran Khan; Mubeen Khan; Miriam Bauwens; Toon Rosseel; Dror Sharon; Robert K Koenekoop; Gavin Arno; Andrew Webster; Carmel Toomes; Claire-Marie Dhaenens; Frans P.M. Cremers; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1451.

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Repeatability of Best Corrected Visual Acuity (BCVA) and Ellipsoid Zone (EZ) width in eyes with Retinitis Pigmentosa (RP)

Antisense therapy improves photoreceptor cell function and halts Müller activation in USH1C mice

Antisense verses gene replacement therapy for USH1C

RetiGene: A Comprehensive Gene Atlas for Inherited Retinal Diseases (IRDs)

Factors associated with microperimetry false positive responses in patients with retinitis pigmentosa (RP)

Natural History of Visual Loss in USH1C

Safety and efficacy of ultevursen for the treatment of USH2A -associated retinitis pigmentosa

Artificial Intelligence in Pediatric Ophthalmology: A Neural Network Model for Predicting Keratoconus in LCA with AIPL1 Mutations

Identification and Validation of Intronic Variants in Patients affected with Inherited Retinal Diseases (IRDs) using Minigene Assay.

Endogenous Levels of N -acetylcysteine in Human Plasma in the NAC Attack Study

RNA-based therapy in Leber congenital amaurosis type 10 (LCA10): key lessons learned from the randomized double-masked, sham-controlled Phase 3 study of sepofarsen

Freiburg Vision Test (FrACT) for assessing visual acuity in Leber congenital amaurosis type 10 (LCA10) patients

Expansion of the ABCA4 -Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

USH1C Vision and Balance Natural History Studies and Approach to Sharing Clinical Data

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

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)

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

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

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