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ARVO Annual Meeting Abstract June 2022

Investigating the role of mutational load and cis modifiers of disease severity in RHO P23H autosomal dominant Retinitis Pigmentosa

Riccardo Sangermano; Egle Galdikaite-Braziene; Erin Zampaglione; Eric A Pierce; Ayellet V. Segrè; Jason Comander; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1594 – A0383. doi:

ARVO Annual Meeting Abstract June 2022

Exploratory Safety Profile of EDIT-101, a First-in-Human in vivo CRISPR Gene Editing Therapy for CEP290 -related Retinal Degeneration

Michael C Jaskolka; Saleh El-Husayni; Brian Duke; Amanda Erlwein; Rene Myers; Mark E Pennesi; Eric A Pierce; Lisa A. Michaels; Mark Shearman; Kate Zhang; Swati Mukherjee

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2836 – A0352. doi:

ARVO Annual Meeting Abstract June 2022

A rare variant in ZBED1 , a gene from the pseudoautosomal region of the X and Y chromosomes, is a likely cause of dominant retinitis pigmentosa in several large families.

Lori S Sullivan; Elizabeth Cadena; Sara Bowne; Kinga Maria Bujakowska; Egle Galdikaite-Braziene; Emily Place; Eric A Pierce; Radha Ayyagari; Daniel Koboldt; David G Birch; Kaylie Jones; Kari Branham; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4120 – F0357. doi:

ARVO Annual Meeting Abstract June 2021

NMNAT1 -Associated Retinal Degeneration: Consequences of Reduced Nuclear NAD + Production

Emily Brown; Michael Scandura; Sudeep Mehrotra; Scott H Greenwald; Daniela Pignatta; Jianhai Du; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3060. doi:

ARVO Annual Meeting Abstract June 2020

In vivo studies of changes in Photoreceptor-RPE-Choroid Neurovascular Unit (PRC-NVU) morphology and function in the mouse models of Doyne Honeycomb Retinal Dystrophy and RPE mitochondrial dysfunction

Karuna Kesavan Kothandath; Ratheesh Kumar Meleppat; Sarah Karlen; Gabriel Peinado; Pengfei Zhang; Eric A Pierce; Douglas Vollrath; Edward N Pugh; Robert Zawadzki

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):190. doi:

ARVO Annual Meeting Abstract June 2020

Duped by a duplication: Heterozygous duplication in PRPF31 causes Retinitis pigmentosa in elusive gene family

Hilary Scott; Anna Larson; Katherine R Chao; Stephanie P DiTroia; Rossano Butcher; Emily Place; Eric A Pierce; Kinga Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4468. 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

Phenotypic variability in patients with CDHR1 mutations

David Andrew Terrell; Rachel M Huckfeldt; Eric A Pierce; Emily Margaret Place

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):376. doi:

ARVO Annual Meeting Abstract July 2019

Mutations in splicing factors that cause Retinitis Pigmentosa (RP) do not affect splicing in a global manner

Revital Bronstein; Sudeep Mehrotra; Elizabeth E. Capowski; Leah Foltz; Michael H Farkas; David M Gamm; Dennis O Clegg; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):379. doi:

ARVO Annual Meeting Abstract July 2019

Mutations in WDR34 is a rare cause of non-syndromic autosomal recessive rod-cone dystrophy

Isabelle S Audo; Maria Solaguren-Beascoa; Kinga Bujakowska; Cécile Méjécase; Lisa Emmengger; Saddek Mohand-Said; Thierry D Leveillard; Eric A Pierce; Helene Dollfus; Jose Alain Sahel; Shomi Bhattacharya; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):381. doi:

ARVO Annual Meeting Abstract July 2019

Subfoveal gene augmentation therapy for choroideremia: One-year results from a Phase I/II trial of AAV2-hCHM

Rachel M Huckfeldt; Tomas S Aleman; Tu Doan; Xiao-Hong Wen; Carol Weigel-DiFranco; Daniel C Chung; Emily Liu; Eric A Pierce; Jean Bennett; Albert M. Maguire; Dean Eliott; Jason Comander

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6401. doi:

ARVO Annual Meeting Abstract July 2019

Complement factor B is necessary for sub-RPE deposit formation in Efemp1 R345W /R345W knock-in mice

Maura Crowley; Donita Garland; Rosario Fernandez-Godino; Tomas Rejtar; Natasha Buchanan; Karen Anderson; Holger Sellner; Muneto Mogi; Y. Karen Wang; Bruce Jaffee; Stephen H Poor; Thaddeus Dryja; Eric A Pierce; Sha-Mei Liao

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1241. doi:

ARVO Annual Meeting Abstract July 2019

Gene augmentation therapy for NMNAT1 -associated retinal degeneration: Promise and challenges

Scott H Greenwald; Basil S Pawlyk; Erin Hennessey; Michael J Scandura; Ru Xiao; Luk H Vandenberghe; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3405. doi:

ARVO Annual Meeting Abstract July 2019

Evaluating methods for differential gene expression and alternative splicing using internal synthetic controls

Sudeep Mehrotra; Revital Bronstein; Daniel Navarro-Gomez; Ayellet Segre; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3437. doi:

ARVO Annual Meeting Abstract July 2019

Single-cell transcriptomic analysis of human NRL null retinal organoids

Donald J Zack; Alyssa Kallman; Elizabeth E. Capowski; Anu Kaushik; Liben Chen; Melissa Liu; Alex Jansen; Kim Edwards; Cindy Berlinicke; Ming-Wen Hu; Jiang Qian; Eric A Pierce; Jeff Wang; David M Gamm

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4766. doi:

ARVO Annual Meeting Abstract July 2019

AAV2- hCHM Subretinal Delivery to the Macula in Choroideremia: 2 year Results of an Ongoing Phase I/II Gene Therapy Trial

Tomas S Aleman; Rachel M Huckfeldt; Leona Serrano; Grace Vergilio; Denise J Pearson; Katherine E. Uyhazi; Sarah McCague; Kathleen Marshall; Daniel C Chung; Emily Liu; Eric A Pierce; Jessica Ijams Wolfing Morgan; Jean Bennett; Dean Eliott; Jason Comander; Albert M. Maguire

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5173. doi:

ARVO Annual Meeting Abstract July 2019

Development of a rapid and cost-effective CRISPR-based molecular detection platform for a novel myocilin mutation in rural Philippines.

Edward Ryan Collantes; Nachiket Pendse; Aaron Dy; Jonathan Gootenberg; Omar Abudayyeh; Baojian Fan; James J. Collins; Feng Zhang; Eric A Pierce; Qin Liu; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6076. doi:

Genetics October 2018

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

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Rola Ba-Abbad; Monique Leys; Xinjing Wang; Christina Chakarova; Naushin Waseem; Keren J. Carss; F. Lucy Raymond; Kinga M. Bujakowska; Eric A. Pierce; Omar A. Mahroo; Moin D. Mohamed; Graham E. Holder; Marybeth Hummel; Gavin Arno; Andrew R. Webster
TAGS: alleles, genes, retinal diseases, signs and symptoms, genetic pedigree
Invest. Ophthalmol. Vis. Sci.. 2018; 59(12):4812-4820. doi: https://doi.org/10.1167/iovs.18-25061

Includes: Supplemental Content

Perspective July 2018

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

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Jacque L. Duncan; Eric A. Pierce; Amy M. Laster; Stephen P. Daiger; David G. Birch; John D. Ash; Alessandro Iannaccone; John G. Flannery; José A. Sahel; Donald J. Zack; Marco A. Zarbin; and the Foundation Fighting Blindness Scientific Advisory Board
TAGS: genes, genetics, retinal degeneration, comprehension, animal model, mutation
Trans. Vis. Sci. Tech.. 2018; 7(4):6. doi: https://doi.org/10.1167/tvst.7.4.6

ARVO Annual Meeting Abstract July 2018

Gene augmentation therapy delays NMNAT1 -associated retinal degeneration in a mouse model

Scott H Greenwald; Raymond Farmer; Erin Hennessey; Kinga Maria Bujakowska; Ru Xiao; Luk Vandenberghe; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4529. doi:

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Investigating the role of mutational load and cis modifiers of disease severity in RHO P23H autosomal dominant Retinitis Pigmentosa

Exploratory Safety Profile of EDIT-101, a First-in-Human in vivo CRISPR Gene Editing Therapy for CEP290 -related Retinal Degeneration

A rare variant in ZBED1 , a gene from the pseudoautosomal region of the X and Y chromosomes, is a likely cause of dominant retinitis pigmentosa in several large families.

NMNAT1 -Associated Retinal Degeneration: Consequences of Reduced Nuclear NAD + Production

In vivo studies of changes in Photoreceptor-RPE-Choroid Neurovascular Unit (PRC-NVU) morphology and function in the mouse models of Doyne Honeycomb Retinal Dystrophy and RPE mitochondrial dysfunction

Duped by a duplication: Heterozygous duplication in PRPF31 causes Retinitis pigmentosa in elusive gene family

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

Phenotypic variability in patients with CDHR1 mutations

Mutations in splicing factors that cause Retinitis Pigmentosa (RP) do not affect splicing in a global manner

Mutations in WDR34 is a rare cause of non-syndromic autosomal recessive rod-cone dystrophy

Subfoveal gene augmentation therapy for choroideremia: One-year results from a Phase I/II trial of AAV2-hCHM

Complement factor B is necessary for sub-RPE deposit formation in Efemp1 R345W /R345W knock-in mice

Gene augmentation therapy for NMNAT1 -associated retinal degeneration: Promise and challenges

Evaluating methods for differential gene expression and alternative splicing using internal synthetic controls

Single-cell transcriptomic analysis of human NRL null retinal organoids

AAV2- hCHM Subretinal Delivery to the Macula in Choroideremia: 2 year Results of an Ongoing Phase I/II Gene Therapy Trial

Development of a rapid and cost-effective CRISPR-based molecular detection platform for a novel myocilin mutation in rural Philippines.

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

Gene augmentation therapy delays NMNAT1 -associated retinal degeneration in a mouse model

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