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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

Articles December 2021

Effect of Pharmacological Pupil Dilation on Dark-Adapted Perimetric Sensitivity in Healthy Subjects Using an Octopus 900 Perimeter

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Austin D. Igelman; Cristy Ku; Sam Mershon; Mariana Matioli da Palma; J. Jason McAnany; Robert A. Hyde; Jason C. Park; Paul Yang; Mark E. Pennesi
TAGS: color, dilatation, pathologic, mydriasis, perimetry, pharmacology, pupil dilation, octopus
Trans. Vis. Sci. Tech.. 2021; 10(14):18. doi: https://doi.org/10.1167/tvst.10.14.18

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

NIGHT study: natural progression of choroideremia

Byron L Lam; Robert E MacLaren; M. Dominik Fischer; Frank G Holz; Mark E Pennesi; David G Birch; Eeva-Marja Sankila; Isabelleanne Meunier; Kimberly E Stepien; Juliana M.F. Sallum; Cindy Lu; Jiajun Liu; Dan Yoon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):34. doi:

ARVO Annual Meeting Abstract June 2021

Effect of pupil dilation on dark adapted perimetry using an Octopus 900 perimeter

Austin Igelman; Cristy Ann Ku; Mariana Matioli da Palma; Paul Yang; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):499. doi:

ARVO Annual Meeting Abstract June 2021

Phenotypic and genotypic spectrum of HGSNAT-related retinopathy

Mariana Matioli da Palma; Austin D. Igelman; Amanda Burr; Cristy Ann Ku; Paul Yang; Juliana M.F. Sallum; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3225. 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:

ARVO Annual Meeting Abstract June 2021

Visual function improvements with BIIB112 (NSR-RPGR) in X-linked retinitis pigmentosa: XIRIUS (dose-expansion) and XOLARIS (natural disease progression) studies

Robert E MacLaren; Byron L Lam; Andrew J Lotery; Paulo Eduardo Stanga; Assad Jalil; Mark E Pennesi; David G Birch; Christine Kay; Jiajun Liu; Eileen Liao; Lenore von Krusenstiern

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1479. doi:

ARVO Annual Meeting Abstract June 2021

Patient-reported visual functioning in persons with bi-allelic USH2A variants

Elise Heon; B. Michele Melia; Laura E Bocchino; Jacque L Duncan; Allison Ayala; Chris Bradley; Isabelle Audo; Janet K Cheetham; Gislin Dagnelie; Todd Durham; Carel Hoyng; Nieraj Jain; Thiran Jayasundera; Mark E Pennesi; Christina Y Weng

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3541. doi:

ARVO Annual Meeting Abstract June 2021

Twelve-month Findings from Two Phase 1/2 Clinical Studies of Subretinal Gene Therapy Drugs for Achromatopsia

Mark E Pennesi; Paul Yang; Andreas Lauer; Robert A Sisk; Jason M Comander; Rachel M. Huckfeldt; Edward Averbuhk; Eyal Banin; Ninel Gregori; Janet L Davis; Byron L Lam; Christine Kay; Erin Leone; Deanine Halliman; Nnenna Ihekoromadu; Matthew Feinsod

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3321. doi:

ARVO Annual Meeting Abstract June 2021

Treatment outcomes in 11 patients with RPE65- retinopathy receiving voritegene neparvovec-rzyl

Cristy Ann Ku; Mariana Matioli da Palma; Austin Igelman; Andreas Lauer; Steven Bailey; Jacque L Duncan; Paul Yang; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3320. doi:

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:

Articles May 2021

Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure

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Katie M. Litts; Erica N. Woertz; Niamh Wynne; Brian P. Brooks; Alicia Chacon; Thomas B. Connor, Jr.; Deborah Costakos; Alina Dumitrescu; Arlene V. Drack; Gerald A. Fishman; William W. Hauswirth; Christine N. Kay; Byron L. Lam; Michel Michaelides; Mark E. Pennesi; Kimberly E. Stepien; Sasha Strul; C. Gail Summers; Joseph Carroll
TAGS: achromatopsia, albinism, retinal cone, diagnostic imaging, mosaicism
Trans. Vis. Sci. Tech.. 2021; 10(6):22. doi: https://doi.org/10.1167/tvst.10.6.22

Includes: Supplemental Content

Perspective April 2021

Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

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Todd A. Durham; Jacque L. Duncan; Allison R. Ayala; David G. Birch; Janet K. Cheetham; Frederick L. Ferris, III; Carel B. Hoyng; Mark E. Pennesi; José-Alain Sahel; for the Foundation Fighting Blindness Consortium Investigator Group
TAGS: blindness, rare diseases
Trans. Vis. Sci. Tech.. 2021; 10(4):23. doi: https://doi.org/10.1167/tvst.10.4.23

Articles January 2021

Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia

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Katie M. Litts; Erica N. Woertz; Michalis Georgiou; Emily J. Patterson; Byron L. Lam; Gerald A. Fishman; Mark E. Pennesi; Christine N. Kay; William W. Hauswirth; Michel Michaelides; Joseph Carroll
TAGS: achromatopsia, artifacts, diagnostic imaging, ophthalmoscopy, optical coherence tomography, optics
Trans. Vis. Sci. Tech.. 2021; 10(1):11. doi: https://doi.org/10.1167/tvst.10.1.11

Includes: Supplemental Content

Retina November 2020

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

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Maria F. Shurygina; Joseph M. Simonett; Maria A. Parker; Amanda Mitchell; Florin Grigorian; Jacob Lifton; Aaron Nagiel; Alexander A. Shpak; Elena L. Dadali; Irina A. Mishina; Richard G. Weleber; Paul Yang; Mark E. Pennesi

Invest. Ophthalmol. Vis. Sci.. 2020; 61(13):2. doi: https://doi.org/10.1167/iovs.61.13.2

Includes: Supplemental Content

Articles October 2020

A Ketogenic & Low-Protein Diet Slows Retinal Degeneration in rd10 Mice

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Renee C. Ryals; Samuel J. Huang; Dahlia Wafai; Claire Bernert; William Steele; Makayla Six; Shasank Bonthala; Hope Titus; Paul Yang; Melanie Gillingham; Mark E. Pennesi
TAGS: diet, diet, protein-restricted, mice, proteins, retina, retinal degeneration, electroretinography, serum albumin
Trans. Vis. Sci. Tech.. 2020; 9(11):18. doi: https://doi.org/10.1167/tvst.9.11.18

Includes: Multimedia, Supplemental Content

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

Retina August 2020

Suppression of cGMP-Dependent Photoreceptor Cytotoxicity With Mycophenolate Is Neuroprotective in Murine Models of Retinitis Pigmentosa

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Paul Yang; Rachel Lockard; Hope Titus; Jordan Hiblar; Kyle Weller; Dahlia Wafai; Richard G. Weleber; Robert M. Duvoisin; Catherine W. Morgans; Mark E. Pennesi
TAGS: cyclic gmp, cytotoxicity, mice, photoreceptors, mycophenolate mofetil, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2020; 61(10):25. doi: https://doi.org/10.1167/iovs.61.10.25

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Pentosan Polysulfate Maculopathy: Disease Course after Drug Cessation

Rachel Shah; Riley Lyons; Joseph Simonett; Mark E Pennesi; Rajesh C Rao; Nieraj Jain

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1063. doi:

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

Effect of Pharmacological Pupil Dilation on Dark-Adapted Perimetric Sensitivity in Healthy Subjects Using an Octopus 900 Perimeter

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

NIGHT study: natural progression of choroideremia

Effect of pupil dilation on dark adapted perimetry using an Octopus 900 perimeter

Phenotypic and genotypic spectrum of HGSNAT-related retinopathy

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

Visual function improvements with BIIB112 (NSR-RPGR) in X-linked retinitis pigmentosa: XIRIUS (dose-expansion) and XOLARIS (natural disease progression) studies

Patient-reported visual functioning in persons with bi-allelic USH2A variants

Twelve-month Findings from Two Phase 1/2 Clinical Studies of Subretinal Gene Therapy Drugs for Achromatopsia

Treatment outcomes in 11 patients with RPE65- retinopathy receiving voritegene neparvovec-rzyl

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

Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure

Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

A Ketogenic & Low-Protein Diet Slows Retinal Degeneration in rd10 Mice

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

Suppression of cGMP-Dependent Photoreceptor Cytotoxicity With Mycophenolate Is Neuroprotective in Murine Models of Retinitis Pigmentosa

Pentosan Polysulfate Maculopathy: Disease Course after Drug Cessation

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