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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

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

The Pro-EYS Study: Visual Acuity, Electroretinography, Contrast Sensitivity, and Full-Field Stimulus Thresholds in Patients With Retinal Degeneration Associated With Biallelic Variants in the EYS Gene

Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1542.

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

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

Imran H Yusuf; Richard Caswell; Parveen Sen; Maria Vadala; Patrik Schatz; Said El Shamieh; Srilekha Sundaramurthy; Sinje Geuer; Isabelle Meunier; Christina Zeitz; Isabelle S Audo; Inmaculada Martin-Merida; Carmen Ayuso; Ajoy Vincent; Andrew R Webster; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5441.

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.

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.

ARVO Annual Meeting Abstract June 2022

Microperimetry and optical coherence tomography measures over 2 years in the RUSH2A study: annual rates of change from mixed effects modeling

Ajoy Vincent; Eleonora M Lad

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3339 – F0148.

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

PDF

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

The Role of Extended Phenotyping and Functional Testing in Variant Interpretation of a Complex Patient with Overlapping Traits

Zhuo Shao; Ikuo Masuho; Anupreet Tumber; Jason Maynes; Erika Tavares; Stacy Hewson; Andreas Schulze; Peter Kannu; Kirill A Martemyanov; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1562.

ARVO Annual Meeting Abstract June 2021

Retinal Phenotyping of a murine model of Lafora Disease

Ajoy Vincent; Kashif Ahmed; Xiaochu Zhao; Berge Minassian

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1542.

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

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.

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

Values of Retinoblastoma Survivors and Parents Regarding Treatment Outcomes: A Qualitative Study

Ana Janic; Ajoy Vincent; Jennifer Stinson; Helen Dimaras

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):31.

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

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

The Pro-EYS Study: Visual Acuity, Electroretinography, Contrast Sensitivity, and Full-Field Stimulus Thresholds in Patients With Retinal Degeneration Associated With Biallelic Variants in the EYS Gene

Characterization of the Retinal Phenotype in PYGM -related McArdle Disease

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

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

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

Microperimetry and optical coherence tomography measures over 2 years in the RUSH2A study: annual rates of change from mixed effects modeling

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

The Role of Extended Phenotyping and Functional Testing in Variant Interpretation of a Complex Patient with Overlapping Traits

Retinal Phenotyping of a murine model of Lafora Disease

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

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

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

Values of Retinoblastoma Survivors and Parents Regarding Treatment Outcomes: A Qualitative Study

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