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ARVO Annual Meeting Abstract June 2022

Interim Safety Results in Two Phase 1/2 Open-label, Dose-escalation Clinical Trials of Subretinal Gene Therapy with AGTC-401 (rAAV2tYF-PR1.7-hCNGB3) and AGTC-402 (rAAV2tYF-PR1.7-hCNGA3) in Subjects with Achromatopsia (ACHM)

Alessandro Iannaccone; Mark E Pennesi; Paul Yang; Andreas Lauer; Robert Sisk; Ninel Z Gregori; Janet L Davis; Byron L Lam; Christine Nichols Kay; Mauro Goldbaum; Bright Senyo Ashimatey; Feng Zhu; Matthew Feinsod; Lejla Vajzovic

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2829 – A0345. doi:

ARVO Annual Meeting Abstract June 2022

Retinal and optic nerve inflammatory findings are a common feature in patients with USH2A -associated retinal degeneration

Oleg Alekseev; Emily Krauss; Marina Kedrov; Grazyna Adamus; Alessandro Iannaccone

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4498 – F0285. doi:

ARVO Annual Meeting Abstract June 2022

18 Month Analysis of Macular Structure using Optical Coherence Tomography (OCT) from a Phase 1/2 Clinical Study of Subretinal Gene Therapy Drug AGTC-501 for X-Linked Retinitis Pigmentosa

Paul Yang; Andreas Lauer; Mark E Pennesi; David G Birch; Rand Spencer; Robert Sisk; Alessandro Iannaccone; Matthew Feinsod; Mauro Goldbaum

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4399 – F0078. doi:

Retina March 2022

The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene

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David G. Birch; Lassana Samarakoon; Michele Melia; Jacque L. Duncan; Allison R. Ayala; Isabelle Audo; Janet K. Cheetham; Todd A. Durham; Alessandro Iannaccone; Mark E. Pennesi; Katarina Stingl; for the Foundation Fighting Blindness Consortium Investigator Group
TAGS: genes, retinal degeneration, rod photoreceptors, visual fields, illness length
Invest. Ophthalmol. Vis. Sci.. 2022; 63(3):17. doi: https://doi.org/10.1167/iovs.63.3.17

Genetics June 2021

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

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

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Dark-adapted visual fields (DAVF) in patients with two disease-causing variants in USH2A

David G Birch; Lassana Samarakoon; Laura E Bocchino; B. Michele Melia; Jacque L Duncan; Allison Ayala; Isabelle Audo; Janet K Cheetham; Todd Durham; Alessandro Iannaccone; Mark E Pennesi; Katarina Stingl

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3241. doi:

ARVO Annual Meeting Abstract June 2021

Inflammatory Findings in Autosomal Recessive Retinitis Pigmentosa (ARRP) Associated with EYS Gene Mutations

Oleg Alekseev; Grazyna Adamus; Alessandro Iannaccone

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3234. doi:

ARVO Annual Meeting Abstract June 2021

Auditory and olfactory findings from the Rate of Progression of USH2A -related Retinal Degeneration (RUSH2A) study

Alessandro Iannaccone; Carmen C. Brewer; Peiyao Cheng; Jacque L Duncan; Maureen G Maguire; Isabelle Audo; Allison Ayala; Paul S Bernstein; Gavin M. bidelman; Janet K Cheetham; Richard L. Doty; Todd Durham; Robert B Hufnagel; Mark H. Myers; Wadih M Zein

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1537. doi:

ARVO Annual Meeting Abstract June 2021

A complex retinal dystrophy-obesity phenotype is associated with compound heterozygous loss-of-function TUB gene mutations

Priya Gupta; Kelly Schoch; Yong-Hui Jiang; Vandana Shashi; Alessandro Iannaccone

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1535. doi:

ARVO Annual Meeting Abstract June 2021

Characterization of the ocular phenotype in older patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

Terry Lee; Xinxin Zhang; Marina Kedrov; Kacie Riley; Victoria Griffiths; Muge Gucsavas Calikoglu; Dwight Koeberl; Alessandro Iannaccone

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1529. doi:

ARVO Annual Meeting Abstract June 2021

Six Month Findings from a Phase 1/2 Clinical Study of Subretinal Gene Therapy Drug AGTC-501 for X-Linked Retinitis Pigmentosa Show Clinically Meaningful Improvement in Macular Sensitivity

Paul Yang; Andreas Lauer; Mark E Pennesi; David G Birch; rand spencer; Robert A Sisk; Alessandro Iannaccone; Erin Leone; Deanine Halliman; Nnenna Ihekoromadu; Matthew Feinsod

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1481. doi:

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

Comparison between human NR2E3 -related disease and murine retinal characteristics identifies interspecies imaging correlates of key histological findings in rd7 mice

Alessandro Iannaccone; Emily Brabbit; Alfonso Senatore; Shyamtanu Datta; Neena B Haider

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1954. doi:

ARVO Annual Meeting Abstract June 2020

Expanding the spectrum of RHO-associated autosomal dominant retinitis pigmentosa (ADRP): Further insights on rare and incompletely characterized mutations causing a Class-B altitudinal phenotype

Marilyn Ann Marquez; Alfonso Senatore; Alessandro Iannaccone

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3028. doi:

ARVO Annual Meeting Abstract June 2020

Clinical, functional and imaging findings in autosomal dominant retinitis pigmentosa (ADRP) due to the P23H rhodopsin mutation

Alfonso Senatore; Marilyn Ann Marquez; Roberto Gattegna; Alessandro Iannaccone

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3034. 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:

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

Basal Cell Carcinoma-Associated Retinopathy and Optic Neuropathy (BARN): A Novel Paraneoplastic Entity

Alessandro Iannaccone; Faith Birnbaum; Rachel Champaigne; Grazyna Adamus

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2780. doi:

ARVO Annual Meeting Abstract July 2019

Emerging Phenotypic Characteristics and Identification of Novel Mutations in Autosomal Recessive Retinitis Pigmentosa (ARRP) Associated with the EYS Gene

Roberto Gattegna; Isaac Bleicher; Alessandro Iannaccone

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4508. doi:

Biochemistry and Molecular Biology August 2018

Murine Retinal Citrullination Declines With Age and is Mainly Dependent on Peptidyl Arginine Deiminase 4 (PAD4)

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T. J. Hollingsworth; Marko Z. Radic; Sarka Beranova-Giorgianni; Francesco Giorgianni; Yanming Wang; Alessandro Iannaccone
TAGS: arginine, citrullination, mice, western blotting, retina, antibodies, peptides
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):3808-3815. doi: https://doi.org/10.1167/iovs.18-24118

Includes: Supplemental Content

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Interim Safety Results in Two Phase 1/2 Open-label, Dose-escalation Clinical Trials of Subretinal Gene Therapy with AGTC-401 (rAAV2tYF-PR1.7-hCNGB3) and AGTC-402 (rAAV2tYF-PR1.7-hCNGA3) in Subjects with Achromatopsia (ACHM)

Retinal and optic nerve inflammatory findings are a common feature in patients with USH2A -associated retinal degeneration

18 Month Analysis of Macular Structure using Optical Coherence Tomography (OCT) from a Phase 1/2 Clinical Study of Subretinal Gene Therapy Drug AGTC-501 for X-Linked Retinitis Pigmentosa

The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene

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

Dark-adapted visual fields (DAVF) in patients with two disease-causing variants in USH2A

Inflammatory Findings in Autosomal Recessive Retinitis Pigmentosa (ARRP) Associated with EYS Gene Mutations

Auditory and olfactory findings from the Rate of Progression of USH2A -related Retinal Degeneration (RUSH2A) study

A complex retinal dystrophy-obesity phenotype is associated with compound heterozygous loss-of-function TUB gene mutations

Characterization of the ocular phenotype in older patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

Six Month Findings from a Phase 1/2 Clinical Study of Subretinal Gene Therapy Drug AGTC-501 for X-Linked Retinitis Pigmentosa Show Clinically Meaningful Improvement in Macular Sensitivity

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

Comparison between human NR2E3 -related disease and murine retinal characteristics identifies interspecies imaging correlates of key histological findings in rd7 mice

Expanding the spectrum of RHO-associated autosomal dominant retinitis pigmentosa (ADRP): Further insights on rare and incompletely characterized mutations causing a Class-B altitudinal phenotype

Clinical, functional and imaging findings in autosomal dominant retinitis pigmentosa (ADRP) due to the P23H rhodopsin mutation

Baseline visual fields in the RUSH2A study: Associated factors and correlation with measures of disease severity

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

Basal Cell Carcinoma-Associated Retinopathy and Optic Neuropathy (BARN): A Novel Paraneoplastic Entity

Emerging Phenotypic Characteristics and Identification of Novel Mutations in Autosomal Recessive Retinitis Pigmentosa (ARRP) Associated with the EYS Gene

Murine Retinal Citrullination Declines With Age and is Mainly Dependent on Peptidyl Arginine Deiminase 4 (PAD4)

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