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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

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:

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:

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

A Novel Autosomal Dominant Retinal Dystrophy: Phenotypic description and Preliminary Genetic Investigations in a Pedigree.

Ajoy Vincent; Matteo DiScipio; Erika Tavares; Nicole Roslin; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5050. doi:

ARVO Annual Meeting Abstract July 2019

The number of RPGR cases remains under-represented

Elise Heon; Anjali Vig; Erika Tavares; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):389. doi:

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:

ARVO Annual Meeting Abstract July 2019

The yield of "clinical" genetic testing in inherited retinal disease: experience at the Hospital for Sick Children, Toronto, Canada

Vaishnavi Batmanabane; Alexander Liam Pearson; Caberry Yu; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3976. doi:

Retina September 2018

Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years

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Artur V. Cideciyan; Jason Charng; Alejandro J. Roman; Rebecca Sheplock; Alexandra V. Garafalo; Elise Heon; Samuel G. Jacobson
TAGS: mutation, retinal cone, retinitis pigmentosa, rod photoreceptors, vision, x-linked inheritance, perimetry, gene therapy, visual fields
Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4558-4566. doi: https://doi.org/10.1167/iovs.18-24931

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

BEST1 gene augmentation therapy corrects light-modulated retinal micro-detachments

Karina E Guziewicz; Artur V Cideciyan; William A Beltran; Andras M Komaromy; Valerie Dufour; Malgorzata Swider; Simone Iwabe; Alexander Sumaroka; Brian T Kendrick; Gordon Ruthel; Vince A Chiodo; Elise Heon; William W Hauswirth; Samuel G Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4522. doi:

ARVO Annual Meeting Abstract July 2018

Characterization of retinal structure in ATF6 -associated achromatopsia

Rebecca Mastey; Michalis Georgiou; Christopher S Langlo; Angelos Kalitzeos; Ajoy Vincent; Anthony T Moore; Stephen H. Tsang; Jonathan H Lin; Marielle Young; M Elizabeth Hartnett; Elise Heon; Susanne Kohl; Michel Michaelides; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):669. doi:

Genetics August 2017

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

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Christina Gerth-Kahlert; Amit Tiwari; James V. M. Hanson; Vaishnavi Batmanabane; Elias Traboulsi; Mark E. Pennesi; Abdullah A. Al-Qahtani; Byron L. Lam; John Heckenlively; Sandrine A. Zweifel; Ajoy Vincent; Fabienne Fierz; Daniel Barthelmes; Kari Branham; Naheed Khan; Angela Bahr; Luzy Baehr; István Magyar; Samuel Koller; Silvia Azzarello-Burri; Dunja Niedrist; Elise Heon; Wolfgang Berger
TAGS: autosomal recessive inheritance, de novo mutation, genes, mutation, phenotype, retinitis pigmentosa, language morphology, morphology, macular disorders
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):3840-3850. doi: https://doi.org/10.1167/iovs.17-21597

Retina June 2017

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

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Jason Charng; Samuel G. Jacobson; Elise Heon; Alejandro J. Roman; David B. McGuigan, III; Rebecca Sheplock; Mychajlo S. Kosyk; Malgorzata Swider; Artur V. Cideciyan
TAGS: blindness, luminance, photoreceptors, pupil, reflex, retinal ganglion cells
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):3215-3224. doi: https://doi.org/10.1167/iovs.17-21909

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

North Carolina macular dystrophy: mutations found in 12 additional families

Kent W Small; Fadi Shaya; Svetlana Yelchits; Adam P DeLuca; Richard Alan Lewis; Monique J Leys; Nitin Udar; Benjamin Bakall; Klaus Rohrschneider; Bernard Puech; Virginie Puech; Elise Heon; James C Folk; Gerald A Fishman; Christine Garabetian; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2779. doi:

ARVO Annual Meeting Abstract June 2017

The range of retinal phenotypes in CNGB3 related disease

Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2764. doi:

ARVO Annual Meeting Abstract June 2017

Dysplasia and degeneration in NR2E3 retinopathy: an imaging study

Rola Ba-Abbad; Ajoy Vincent; Adam M Dubis; Katelyn MacNeill; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3224. doi:

ARVO Annual Meeting Abstract June 2017

Interocular Symmetry of Rod and Cone Topography in Human ORF15-RPGR -XLRP Disease Despite Large Intraretinal, Intrafamilial and Interfamilial Variation

Artur V Cideciyan; Jason Charng; Samuel G Jacobson; Alexander Sumaroka; Sharon B. Schwartz; Malgorzata Swider; Alejandro J Roman; Rebecca Sheplock; Manisha Anand; Marc C. Peden; Hemant Khanna; Elise Heon; Alan F. Wright; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3232. doi:

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

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

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.

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

A Novel Autosomal Dominant Retinal Dystrophy: Phenotypic description and Preliminary Genetic Investigations in a Pedigree.

The number of RPGR cases remains under-represented

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

The yield of "clinical" genetic testing in inherited retinal disease: experience at the Hospital for Sick Children, Toronto, Canada

Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years

BEST1 gene augmentation therapy corrects light-modulated retinal micro-detachments

Characterization of retinal structure in ATF6 -associated achromatopsia

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

North Carolina macular dystrophy: mutations found in 12 additional families

The range of retinal phenotypes in CNGB3 related disease

Dysplasia and degeneration in NR2E3 retinopathy: an imaging study

Interocular Symmetry of Rod and Cone Topography in Human ORF15-RPGR -XLRP Disease Despite Large Intraretinal, Intrafamilial and Interfamilial Variation

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