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Retina December 2024

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients

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Tomas S. Aleman; Alejandro J. Roman; Katherine E. Uyhazi; Yu You Jiang; Emma C. Bedoukian; Alexander Sumaroka; Vivian Wu; Malgorzata Swider; Iryna Viarbitskaya; Robert C. Russell; Elizabeth O. Shagena; Arlene J. Santos; Leona W. Serrano; Kelsey M. Parchinski; Rebecca J. Kim; Mariejel L. Weber; Alexandra V. Garafalo; Dorothy A. Thompson; Albert M. Maguire; Jean Bennett; Drew H. Scoles; Erin C. O'Neil; Jessica I. W. Morgan; Artur V. Cideciyan
TAGS: pediatrics, retina, retinal cone, retinal degeneration, vision, photoreceptors, diagnostic imaging, rod photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2024; 65(14):30. https://doi.org/10.1167/iovs.65.14.30

Includes: Supplemental Content

Visual Psychophysics and Physiological Optics December 2024

Retinal Sensitivity in Comparison to Cone Density in Choroideremia

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Niamh Wynne; Yu You Jiang; Tomas S. Aleman; Jessica I. W. Morgan
TAGS: atrophic condition of skin, choroideremia, retinal cone
Invest. Ophthalmol. Vis. Sci.. 2024; 65(14):6. https://doi.org/10.1167/iovs.65.14.6

New Developments in Vision Research August 2024

Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12 -Associated Inherited Retinal Degeneration

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Silvia Cerolini; Jean Bennett; Bart P. Leroy; Todd Durham; Courtney Coates; Mathew T. Pletcher; Sue Lacey; Tomas S. Aleman
TAGS: gene therapy, outcome measures, retinal degeneration, science, vision
Trans. Vis. Sci. Tech.. 2024; 13(8):17. https://doi.org/10.1167/tvst.13.8.17

ARVO Annual Meeting Abstract June 2024

Choroidal Evaluation of FTLD-Tau and Biomarker-Determined Alzheimer’s Disease

Benjamin Kim; Ebenezer Daniel; Tomas S Aleman; Katheryn A.Q. Cousins; Emma Iacobucci; Yinxi Yu; Gui-Shuang Ying; David Irwin

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1375.

ARVO Annual Meeting Abstract June 2024

Early-onset sub-RPE deposits in late-onset retinal degeneration (L-ORD) caused by the c.489C>G (p.S163R) founder variant in C1QTNF5

Artur V Cideciyan; Randa TH Li; Alejandro J Roman; Alexander Sumaroka; Chloe M Stanton; Malgorzata Swider; Alexandra V Garafalo; Elise Heon; Ajoy Vincent; Alan F Wright; Roly Megaw; Tomas S Aleman; Andrew C Browning; Baljean Dhillon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1385.

ARVO Annual Meeting Abstract June 2024

Treatment Potential of RPGRIP1 -associated Inherited Retinal Degenerations

Emma Bedoukian; Jean Bennett; Katherine E. Uyhazi; Albert Maguire; Erin O'Neil; Emily Krauss; Alejandro J Roman; Alexander Sumaroka; Malgorzata Swider; Drew Scoles; Alexandra V Garafalo; Artur V Cideciyan; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2209.

ARVO Annual Meeting Abstract June 2024

Altered Cone Structure and Function in Subjects with Pentosan Polysulfate Sodium Toxicity

Kristen E Bowles Johnson; Qiuzhi Ji; Yan Liu; Marcel Bernucci; Tomas S Aleman; James Alan Crowell; Donald Thomas Miller

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3903.

ARVO Annual Meeting Abstract June 2024

AAV8- hLCA5 Subretinal Delivery to the Macula in LCA5 -associated Leber Congenital Amaurosis ( LCA5 -LCA): Preliminary Safety and Efficacy Results of an Ongoing Phase I/II Gene Therapy Trial

Tomas S Aleman; Artur V Cideciyan; Mariejel L Weber; Arlene Santos; Katherine E. Uyhazi; Kelsey Parchinski; William Chung; Paris Margaritis; junwei sun; Drew Scoles; Alexandra V Garafalo; Ashwath Jayagopal; Benjamin R Yerxa; Sarah Tuller; Albert Maguire; Jean Bennett

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3288.

ARVO Annual Meeting Abstract June 2024

Retinal sensitivity in comparison to cone density in choroideremia

Niamh Wynne; Yu You Jiang; Tomas S Aleman; Jessica Ijams Wolfing Morgan

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4946.

Retina December 2023

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

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Randa T. H. Li; Alejandro J. Roman; Alexander Sumaroka; Chloe M. Stanton; Malgorzata Swider; Alexandra V. Garafalo; Elise Heon; Ajoy Vincent; Alan F. Wright; Roly Megaw; Tomas S. Aleman; Andrew C. Browning; Baljean Dhillon; Artur V. Cideciyan
TAGS: gene editing, photoreceptors, retina, retinal degeneration, tissue degeneration, diagnostic imaging, retinal cone, fovea centralis, natural history, eye
Invest. Ophthalmol. Vis. Sci.. 2023; 64(15):33. https://doi.org/10.1167/iovs.64.15.33

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Foveal phenotypes on adaptive optics scanning light ophthalmoscopy in choroideremia

Niamh Wynne; Yu You Jiang; Jessica Ijams Wolfing Morgan; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):457.

ARVO Annual Meeting Abstract June 2023

Challenges of common variants for risk assessment and genetic counseling of inherited retinal diseases

Molly Marra; Emma Bedoukain; Kaitlin O’Connell; Emily Place; Michelle Alabek; Erin O'Neil; Tomas S Aleman; Drew Scoles; Jason Comander; Rachel M Huckfeldt; Boris Rosin; Jose Sahel; Lesley Everett; Paul Yang; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):400.

ARVO Annual Meeting Abstract June 2023

A patient-driven, multi-stakeholder, collaborative approach to address IRD endpoint challenges: the RDH12 example

Silvia Cerolini; Jean Bennett; Bart Peter Leroy; Tomas S Aleman; Avril Daly; Todd Durham; Courtney Coates; Mathew Pletcher; Sue Lacey

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):795.

ARVO Annual Meeting Abstract June 2023

Structural and Functional Relationships in RDH12 -Associated Early-Onset Severe Inherited Retinal Degeneration

Erin O'Neil; Vivian Qin; Mariejel Weber; Katherine E. Uyhazi; Drew Scoles; Yu You Jiang; Albert Maguire; Jean Bennett; Jessica Ijams Wolfing Morgan; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1541.

ARVO Annual Meeting Abstract June 2023

Effect of dark adaptation and fixation lights on macular blood flow as determined by laser speckle flowgraphy

Robert A Avery; Tomas S Aleman; Gui-Shuang Ying; Yinxi Yu; Arielle Garcia; Moe Hein Aung

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2536.

ARVO Annual Meeting Abstract June 2023

Safety and Efficacy of EDIT-101 for Treatment of CEP290 -associated Retinal Degeneration

Eric A Pierce; Tomas S Aleman; Bright Ashimatey; Keunpyo Kim; Rashid Rashid; Rene Myers; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3785.

ARVO Annual Meeting Abstract June 2023

Spectrum of disease and management of vitreoretinopathy associated with CTNNB1 mutation.

Drew Scoles; Erin O'Neil; Emma Bedoukain; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3743.

Retina January 2023

Optimization and Validation of a Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations

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Jean Bennett; Elena M. Aleman; Katherine H. Maguire; Jennifer Nadelmann; Mariejel L. Weber; William M. Maguire; Ayodele Maja; Erin C. O'Neil; Albert M. Maguire; Alexander J. Miller; Tomas S. Aleman
TAGS: luminance, mobility, mobility testing, retinal degeneration, virtual reality, vision, visual fields, questionnaires, eye
Trans. Vis. Sci. Tech.. 2023; 12(1):28. https://doi.org/10.1167/tvst.12.1.28

Includes: Multimedia, Supplemental Content

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.

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.

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Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients

Retinal Sensitivity in Comparison to Cone Density in Choroideremia

Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12 -Associated Inherited Retinal Degeneration

Choroidal Evaluation of FTLD-Tau and Biomarker-Determined Alzheimer’s Disease

Early-onset sub-RPE deposits in late-onset retinal degeneration (L-ORD) caused by the c.489C>G (p.S163R) founder variant in C1QTNF5

Treatment Potential of RPGRIP1 -associated Inherited Retinal Degenerations

Altered Cone Structure and Function in Subjects with Pentosan Polysulfate Sodium Toxicity

AAV8- hLCA5 Subretinal Delivery to the Macula in LCA5 -associated Leber Congenital Amaurosis ( LCA5 -LCA): Preliminary Safety and Efficacy Results of an Ongoing Phase I/II Gene Therapy Trial

Retinal sensitivity in comparison to cone density in choroideremia

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

Foveal phenotypes on adaptive optics scanning light ophthalmoscopy in choroideremia

Challenges of common variants for risk assessment and genetic counseling of inherited retinal diseases

A patient-driven, multi-stakeholder, collaborative approach to address IRD endpoint challenges: the RDH12 example

Structural and Functional Relationships in RDH12 -Associated Early-Onset Severe Inherited Retinal Degeneration

Effect of dark adaptation and fixation lights on macular blood flow as determined by laser speckle flowgraphy

Safety and Efficacy of EDIT-101 for Treatment of CEP290 -associated Retinal Degeneration

Spectrum of disease and management of vitreoretinopathy associated with CTNNB1 mutation.

Optimization and Validation of a Virtual Reality Orientation and Mobility Test for Inherited 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

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