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ARVO Annual Meeting Abstract June 2022

Central Structural and Functional Abnormalities in Choroideremia: Longitudinal and Cross-sectional Observations from a Large Cohort of Patients

Erin O'Neil; Katherine E. Uyhazi; Kurt Scavelli; Keli O'Connor; Elizabeth Shagena; Yu You Jiang; Albert M Maguire; Jessica Ijams Wolfing Morgan; Jean Bennett; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4529 – F0316. doi:

ARVO Annual Meeting Abstract June 2022

Preparation for a Gene Augmentation Trial for RDH12 -Associated Retinal Degenerations

Tomas S Aleman; Brent A Bell; Steven Chomistek; Junwei Sun; Mariejel Weber; Jay V Pendyala; Albert M Maguire; Jennifer Pham; Ivan Shpylchak; Shangzhen Zhou; Angela Luo; Paris Margaritis; Zhangyong Wei; Jean Bennett

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4512 – F0299. doi:

ARVO Annual Meeting Abstract June 2022

A novel virtual reality orientation and mobility test to assess functional vision in patients with inherited retinal dystrophies

Jean Bennett; Elena M Aleman; Katherine Maguire; Alexander J Miller; Mariejel Weber; Ayodele Kobina Maja; Albert M Maguire; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4496 – F0283. doi:

ARVO Annual Meeting Abstract June 2022

Preparation for a Gene Therapy Trial for LCA5 -Associated Retinal Degenerations: Treatment Potential in Patients and Dose-ranging Studies in Non-human Primates

Paris Margaritis; Jean Bennett; Steven Chomistek; Vidyullatha Vasireddy; Ivan Shpylchak; Zhangyong Wei; Angela Luo; Junwei Sun; Shangzhen Zhou; Jennifer Pham; Albert M Maguire; Katherine E. Uyhazi; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4141 – F0378. doi:

Articles May 2022

Restoration of Vision and Retinal Responses After Adeno-Associated Virus–Mediated Optogenetic Therapy in Blind Dogs

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Sergei Nikonov; Puya Aravand; Arkady Lyubarsky; Roman Nikonov; Angela J. Luo; Zhangyong Wei; Albert M. Maguire; Nicholas T. Phelps; Ivan Shpylchak; Keirnan Willett; Tomas S. Aleman; Rachel M. Huckfeldt; Pavitra S. Ramachandran; Jean Bennett
TAGS: adeno-associated virus, dog, domestic, gene therapy, optogenetics, retina, retinal cone, vision, mice, animal model
Trans. Vis. Sci. Tech.. 2022; 11(5):24. doi: https://doi.org/10.1167/tvst.11.5.24

Includes: Supplemental Content

Retina December 2021

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

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Monika K. Grudzinska Pechhacker; Samuel G. Jacobson; Arlene V. Drack; Matteo Di Scipio; Ine Strubbe; Wanda Pfeifer; Jacque L. Duncan; Helene Dollfus; Nathalie Goetz; Jean Muller; Andrea L. Vincent; Tomas S. Aleman; Anupreet Tumber; Caroline Van Cauwenbergh; Elfride De Baere; Emma Bedoukian; Bart P. Leroy; Jason T. Maynes; Francis L. Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon
TAGS: natural history, phenotype, retinal degeneration, vision, cohort studies, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2021; 62(15):26. doi: https://doi.org/10.1167/iovs.62.15.26

ARVO Annual Meeting Abstract June 2021

Cone mosaic integrity in choroideremia following gene augmentation via subretinal injection of AAV2- hCHM

Jessica Ijams Wolfing Morgan; Yu You Jiang; Leona W Serrano; Denise J Pearson; Jean Bennett; Albert M Maguire; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):47. doi:

ARVO Annual Meeting Abstract June 2021

Bardet-Biedl Syndrome-7 (BBS7) Shows Treatment Potential and a Cone-Rod Dystrophy Phenotype that Recapitulates the Non-Human Primate Model

Erin O'Neil; Tomas S Aleman; Keli O'Connor; Yu You Jiang; Isabella Aleman; Jessica Ijams Wolfing Morgan; Brian Toussaint; Jean Bennett

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1525. doi:

ARVO Annual Meeting Abstract June 2021

Natural history study of visual function in patients with BBS1- and BBS10 -related retinal degeneration.

Monika Grudzinska Pechhacker; Samuel G Jacobson; Arlene V Drack; Matteo Di Scipio; Ine Stubbe; Jacque L Duncan; Helene Dollfus; Andrea L Vincent; Tomas S Aleman; Bart Leroy; Jason Maynes; Francis Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3284. doi:

ARVO Annual Meeting Abstract June 2020

Detailed Phenotype of Autoimmune Retinopathies with Electroretinography, Multimodal-Imaging and Visual Psychophysics

Yafeng Li; Leona Serrano; Erin O'Neil; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2099. doi:

ARVO Annual Meeting Abstract June 2020

Natural History of Rod and Cone Photoreceptor Dysfunction in Choroideremia

Kurt Scavelli; Erin O'Neil; Leona Serrano; Denise J. Pearson; Jessica Ijams Wolfing Morgan; Albert Maguire; Jean Bennett; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3027. doi:

ARVO Annual Meeting Abstract June 2020

Treatment Potential for LCA5 -associated Leber Congenital Amaurosis

Katherine E. Uyhazi; Puya Aravand; Brent A. Bell; Zhangyong Wei; Lanfranco Leo; Leona Serrano; Denise J. Pearson; Ivan Shpylchak; Jennifer Pham; Vidyullatha Vasireddy; Jean Bennett; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4500. doi:

Retina May 2020

Treatment Potential for LCA5 -Associated Leber Congenital Amaurosis

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Katherine E. Uyhazi; Puya Aravand; Brent A. Bell; Zhangyong Wei; Lanfranco Leo; Leona W. Serrano; Denise J. Pearson; Ivan Shpylchak; Jennifer Pham; Vidyullatha Vasireddy; Jean Bennett; Tomas S. Aleman
TAGS: electroretinography, leber's amaurosis, mice, photoreceptors, tissue degeneration, eye, injections, retina, spectral domain-optical coherence tomography, excipients
Invest. Ophthalmol. Vis. Sci.. 2020; 61(5):30. doi: https://doi.org/10.1167/iovs.61.5.30

Includes: Supplemental Content

Perspective February 2020

Perspectives on Gene Therapy: Choroideremia Represents a Challenging Model for the Treatment of Other Inherited Retinal Degenerations

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Ian M. MacDonald; Christopher Moen; Jacque L. Duncan; Stephen H. Tsang; Jasmina Cehajic-Kapetanovic; Tomas S. Aleman
TAGS: choroideremia, gene therapy, retinal degeneration, spatial vectors
Trans. Vis. Sci. Tech.. 2020; 9(3):17. doi: https://doi.org/10.1167/tvst.9.3.17

ARVO Annual Meeting Abstract July 2019

Structural and Functional Abnormalities in Leber Congenital Amaurosis Caused by Mutations in RDH12: A Short-Term Longitudinal Study

Katherine E. Uyhazi; Leona Serrano; Grace Vergilio; Denise J Pearson; Albert M. Maguire; Jean Bennett; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4509. doi:

ARVO Annual Meeting Abstract July 2019

Structural Markers Predictive of Visual Acuity in Choroideremia

Kurt Scavelli; Drew Scoles; Leona Serrano; Katherine E. Uyhazi; Jessica Ijams Wolfing Morgan; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4523. 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

Variants in myelin regulatory factor ( MYRF) cause autosomal dominant nanophthalmos.

Lev Prasov; Sarah J Garnai; Michelle Brinkmeier; Ben Emery; Tomas S Aleman; Louise C Pyle; Biliana O Veleva-Rotse; Robert Sisk; Sayoko Eileen Moroi; Steven M Archer; Laurel Wiinikka-Buesser; Frank W Rozsa; Gregory L Skuta; Sally Camper; Julia Richards

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5420. 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

Cone Outer Segment Reflectance Entropy in Choroideremia

Andrew M. Huang; Robert F Cooper; Grace Vergilio; Jean Bennett; Albert M. Maguire; Tomas S Aleman; Jessica Ijams Wolfing Morgan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1030. doi:

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Central Structural and Functional Abnormalities in Choroideremia: Longitudinal and Cross-sectional Observations from a Large Cohort of Patients

Preparation for a Gene Augmentation Trial for RDH12 -Associated Retinal Degenerations

A novel virtual reality orientation and mobility test to assess functional vision in patients with inherited retinal dystrophies

Preparation for a Gene Therapy Trial for LCA5 -Associated Retinal Degenerations: Treatment Potential in Patients and Dose-ranging Studies in Non-human Primates

Restoration of Vision and Retinal Responses After Adeno-Associated Virus–Mediated Optogenetic Therapy in Blind Dogs

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Cone mosaic integrity in choroideremia following gene augmentation via subretinal injection of AAV2- hCHM

Bardet-Biedl Syndrome-7 (BBS7) Shows Treatment Potential and a Cone-Rod Dystrophy Phenotype that Recapitulates the Non-Human Primate Model

Natural history study of visual function in patients with BBS1- and BBS10 -related retinal degeneration.

Detailed Phenotype of Autoimmune Retinopathies with Electroretinography, Multimodal-Imaging and Visual Psychophysics

Natural History of Rod and Cone Photoreceptor Dysfunction in Choroideremia

Treatment Potential for LCA5 -associated Leber Congenital Amaurosis

Treatment Potential for LCA5 -Associated Leber Congenital Amaurosis

Perspectives on Gene Therapy: Choroideremia Represents a Challenging Model for the Treatment of Other Inherited Retinal Degenerations

Structural and Functional Abnormalities in Leber Congenital Amaurosis Caused by Mutations in RDH12: A Short-Term Longitudinal Study

Structural Markers Predictive of Visual Acuity in Choroideremia

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

Variants in myelin regulatory factor ( MYRF) cause autosomal dominant nanophthalmos.

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

Cone Outer Segment Reflectance Entropy in Choroideremia

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