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ARVO Annual Meeting Abstract June 2022

Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient induced pluripotent stem cells (iPSCs)-derived retinal pigment epithelium (RPE) cells.

Maria Georgiou; Chunbo Yang; Robert Atkinson; Kuan-Ting Pan; Adriana Buskin; Marina Moya Molina; Joseph Collin; Sebastian E. J. Ludwig; Sushma Nagaraja-Grellscheid; Colin Johnson; Robin Ali; Lyle Armstrong; Viktor Korolchuk; Henning Urlaub; Sina Mozaffari-Jovin; Majlinda Lako

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3818. doi:

Articles September 2020

Validation of a Vision-Guided Mobility Assessment for RPE65 -Associated Retinal Dystrophy

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Neruban Kumaran; Robin R. Ali; Nick A. Tyler; James W. B. Bainbridge; Michel Michaelides; Gary S. Rubin
TAGS: mobility, retinal dystrophies, rpe65 protein, vision, walking speed
Trans. Vis. Sci. Tech.. 2020; 9(10):5. doi: https://doi.org/10.1167/tvst.9.10.5

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Alterations in RPGR isoform levels play a critical role in X-Linked Retinitis Pigmentosa pathogenesis

Laura Moreno Leon; Linjin Li; Emma L West; Michelle O’Hara-Wright; Alexander J Smith; Robin R Ali; Samuel G Jacobson; Artur V Cideciyan; Hemant Khanna

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1955. 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

Retinal Cell Biology August 2019

Highly Differentiated Human Fetal RPE Cultures Are Resistant to the Accumulation and Toxicity of Lipofuscin-Like Material

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Qitao Zhang; Feriel Presswalla; Melissa Calton; Carol Charniga; Jeffrey Stern; Sally Temple; Douglas Vollrath; David N. Zacks; Robin R. Ali; Debra A. Thompson; Jason M. L. Miller
TAGS: fetus, lipofuscin, toxic effect
Invest. Ophthalmol. Vis. Sci.. 2019; 60(10):3468-3479. doi: https://doi.org/10.1167/iovs.19-26690

Includes: Supplemental Content

Cornea July 2019

Modulation of Contact Inhibition by ZO-1/ZONAB Gene Transfer—A New Strategy to Increase the Endothelial Cell Density of Corneal Grafts

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Daniel Kampik; Mark Basche; Anastasios Georgiadis; Ulrich F. O. Luhmann; D. Frank Larkin; Alexander J. Smith; Robin R. Ali
TAGS: contact inhibition, cornea, endothelial cells, endothelium, keratoplasty, gene therapy, gene transfer techniques
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):3170-3177. doi: https://doi.org/10.1167/iovs.18-26260

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Gene therapy for Glaucoma by CRISPR-Cas9 mediated disruption of Aquaporin 1 in the Ciliary Body

Colin J Chu; Jiahui Wu; Oliver Hugh Bell; David Copland; Ryea Maswood; Alison Young; John Pooley; Peng Tee Khaw; Robin R Ali; Andrew D Dick

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5120. doi:

ARVO Annual Meeting Abstract July 2019

Development and efficacy assessment of AAV2/8-hG1.7p.coCNGA3, a CNGA3 gene therapy vector

Tassos Georgiadis; Takaaki Matsuki; Justin Hoke; Matteo Rizzi; Anai Gonzalez-Cordero; Robert Sampson; James WB Bainbridge; Alexander Smith; Robin R Ali

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3426. doi:

Articles October 2017

Augmenting Endogenous Levels of Retinal Annexin A1 Suppresses Uveitis in Mice

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Peter J. Gardner; Samia Yazid; Joana Ribeiro; Robin R. Ali; Andrew D. Dick
TAGS: annexin a1, mice, uveitis, retina, eye
Trans. Vis. Sci. Tech.. 2017; 6(5):10. doi: https://doi.org/10.1167/tvst.6.5.10

Includes: Supplemental Content

Retina June 2017

Early-Onset Progressive Degeneration of the Area Centralis in RPE65-Deficient Dogs

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Freya M. Mowat; Kristen J. Gervais; Laurence M. Occelli; Matthew J. Annear; Janice Querubin; James W. Bainbridge; Alexander J. Smith; Robin R. Ali; Simon M. Petersen-Jones
TAGS: dog, domestic, retina, retinal cone, tissue degeneration, photoreceptors, rod photoreceptors, opsin, eye
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):3268-3277. doi: https://doi.org/10.1167/iovs.17-21930

ARVO Annual Meeting Abstract September 2016

Myeloid-derived VEGF and HIF are dispensable for ocular neovascularisation

Sidath Liyanage; Alessandro Fantin; Pilar Villacampa; Clemens Lange; Laura Denti; Enrico Cristante; Alexander J Smith; Robin R Ali; Ulrich F O Luhmann; James W B Bainbridge; Christiana Ruhrberg

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

ARVO Annual Meeting Abstract September 2016

Lentiviral gene transfer of E2F2 induces regeneration of retinal pigment epithelium in situ

Daniel Kampik; Ulrich F O Luhmann; Koji Miura Nishiguchi; Mark Basche; Alexander J Smith; Hong Han; Jennifer Williams; John Greenwood; Stephen E Moss; Frank Larkin; Robin R Ali

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2128. doi:

Article November 2015

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

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Caterina Ripamonti; G. Bruce Henning; Scott J. Robbie; Venki Sundaram; L. Ingeborgh van den Born; Ingele Casteels; Thomy J. L. de Ravel; Anthony T. Moore; Alexander J. Smith; James W. Bainbridge; Robin R. Ali; Andrew Stockman
TAGS: gene therapy, retinal cone, rod photoreceptors, bleach, photopsia
Journal of Vision. 2015; 15(15):20. doi: https://doi.org/10.1167/15.15.20

ARVO Annual Meeting Abstract June 2015

Dose-response effect of RPE65 gene therapy on retinoid levels and correlation with clinical rescue in Rpe65-deficient dogs.

Freya Mowat; Kecia L Feathers; Alexander J Smith; Debra A Thompson; Simon M Petersen-Jones; James W B Bainbridge; Robin R Ali

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2064. doi:

ARVO Annual Meeting Abstract June 2015

Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179

Livia S Carvalho; Koji Nishiguchi; Matteo Rizzi; Kate Powell; Sophia Kleine Holthaus; Yanai Duran; Ulrich F. O. Luhmann; James W B Bainbridge; Alexander J Smith; Robin R Ali

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):248. doi:

ARVO Annual Meeting Abstract June 2015

Residual Foveal Cone Structure in CNGB3 Achromatopsia: Factors for gene therapy candidate selection

Adam M Dubis; Christopher S Langlo; Alfredo Dubra; Andrew Webster; Jonathan Aboshiha; Anthony T Moore; Robin R Ali; James W B Bainbridge; Joseph Carroll; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4264. doi:

Review February 2015

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

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Debra A. Thompson; Robin R. Ali; Eyal Banin; Kari E. Branham; John G. Flannery; David M. Gamm; William W. Hauswirth; John R. Heckenlively; Alessandro Iannaccone; K. Thiran Jayasundera; Naheed W. Khan; Robert S. Molday; Mark E. Pennesi; Thomas A. Reh; Richard G. Weleber; David N. Zacks; for the Monaciano Consortium
TAGS: retinal degeneration, retinal dystrophies, gene therapy, universities, comprehension, transplantation
Invest. Ophthalmol. Vis. Sci.. 2015; 56(2):918-931. doi: https://doi.org/10.1167/iovs.14-16049

Visual Psychophysics and Physiological Optics October 2014

Nature of the Visual Loss in Observers With Leber's Congenital Amaurosis Caused by Specific Mutations in RPE65

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Caterina Ripamonti; G. Bruce Henning; Robin R. Ali; James W. Bainbridge; Scott J. Robbie; Venki Sundaram; Vy A. Luong; L. Ingeborgh van den Born; Ingele Casteels; Thomy J. L. de Ravel; Anthony T. Moore; Andrew Stockman
TAGS: blindness, contrast sensitivity, eye, flicker fusion, leber's amaurosis, mutation, retinal cone, visual impairment, filters, luminance
Invest. Ophthalmol. Vis. Sci.. 2014; 55(10):6817-6828. doi: https://doi.org/10.1167/iovs.14-14923

Visual Psychophysics and Physiological Optics October 2014

Dark-Adaptation Functions in Molecularly Confirmed Achromatopsia and the Implications for Assessment in Retinal Therapy Trials

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Jonathan Aboshiha; Vy Luong; Jill Cowing; Adam M. Dubis; James W. Bainbridge; Robin R. Ali; Andrew R. Webster; Anthony T. Moore; Frederick W. Fitzke; Michel Michaelides
TAGS: achromatopsia, dark adaptation
Invest. Ophthalmol. Vis. Sci.. 2014; 55(10):6340-6349. doi: https://doi.org/10.1167/iovs.14-14910

Retina September 2014

A Prospective Longitudinal Study of Retinal Structure and Function in Achromatopsia

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Jonathan Aboshiha; Adam M. Dubis; Jill Cowing; Rachel T. A. Fahy; Venki Sundaram; James W. Bainbridge; Robin R. Ali; Alfredo Dubra; Marko Nardini; Andrew R. Webster; Anthony T. Moore; Gary Rubin; Joseph Carroll; Michel Michaelides
TAGS: achromatopsia, follow-up, fundus autofluorescence imaging, natural history, prospective studies, retina, contrast sensitivity, genotype, significance, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2014; 55(9):5733-5743. doi: https://doi.org/10.1167/iovs.14-14937

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Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient induced pluripotent stem cells (iPSCs)-derived retinal pigment epithelium (RPE) cells.

Validation of a Vision-Guided Mobility Assessment for RPE65 -Associated Retinal Dystrophy

Alterations in RPGR isoform levels play a critical role in X-Linked Retinitis Pigmentosa pathogenesis

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

Highly Differentiated Human Fetal RPE Cultures Are Resistant to the Accumulation and Toxicity of Lipofuscin-Like Material

Modulation of Contact Inhibition by ZO-1/ZONAB Gene Transfer—A New Strategy to Increase the Endothelial Cell Density of Corneal Grafts

Gene therapy for Glaucoma by CRISPR-Cas9 mediated disruption of Aquaporin 1 in the Ciliary Body

Development and efficacy assessment of AAV2/8-hG1.7p.coCNGA3, a CNGA3 gene therapy vector

Augmenting Endogenous Levels of Retinal Annexin A1 Suppresses Uveitis in Mice

Early-Onset Progressive Degeneration of the Area Centralis in RPE65-Deficient Dogs

Myeloid-derived VEGF and HIF are dispensable for ocular neovascularisation

Lentiviral gene transfer of E2F2 induces regeneration of retinal pigment epithelium in situ

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

Dose-response effect of RPE65 gene therapy on retinoid levels and correlation with clinical rescue in Rpe65-deficient dogs.

Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179

Residual Foveal Cone Structure in CNGB3 Achromatopsia: Factors for gene therapy candidate selection

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

Nature of the Visual Loss in Observers With Leber's Congenital Amaurosis Caused by Specific Mutations in RPE65

Dark-Adaptation Functions in Molecularly Confirmed Achromatopsia and the Implications for Assessment in Retinal Therapy Trials

A Prospective Longitudinal Study of Retinal Structure and Function in Achromatopsia

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