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Perspective June 2023

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

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David G. Birch; Janet K. Cheetham; Stephen P. Daiger; Carel Hoyng; Christine Kay; Ian M. MacDonald; Mark E. Pennesi; Lori S. Sullivan
TAGS: gene therapy, mutation, natural history, phenotype, retinitis pigmentosa, x-linked inheritance, disease progression, blindness, retinal diseases, surrogate endpoints
Trans. Vis. Sci. Tech.. 2023; 12(6):5. https://doi.org/10.1167/tvst.12.6.5

ARVO Annual Meeting Abstract June 2022

Natural history of the progression of choroideremia; 24-month follow-up

David G Birch; Paul S Bernstein; Ian M MacDonald; Timothy Stout; David Liao; Kirsten Locke; Yi Zhai; Manlong Xu; Mark Lomax; Shobana Aravind; Jennifer Verriotto; David Kirn; Peter Francis

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4291.

ARVO Annual Meeting Abstract June 2021

Five-year results after AAV2-REP1 gene therapy for choroideremia

Yi Zhai; Manlong Xu; Ioannis S Dimopoulos; Robert E. MacLaren; Rizwan Somani; Matthew TS Tennant; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3318.

ARVO Annual Meeting Abstract June 2021

How do RA and SLE patients differ while on long-term hydroxychloroquine therapy?

Manlong Xu; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):193.

Articles May 2021

Validating Ellipsoid Zone Area Measurement With Multimodal Imaging in Choroideremia

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Yi Zhai; Sarah Oke; Ian M. MacDonald
TAGS: choroideremia, eye, face, multimodal imaging, photoreceptors, meridians
Trans. Vis. Sci. Tech.. 2021; 10(6):17. https://doi.org/10.1167/tvst.10.6.17

Includes: Supplemental Content

Retina June 2020

Visual Field Progression in Retinitis Pigmentosa

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Manlong Xu; Yi Zhai; Ian M. MacDonald
TAGS: retinitis pigmentosa, visual fields, blindness, survival analysis
Invest. Ophthalmol. Vis. Sci.. 2020; 61(6):56. https://doi.org/10.1167/iovs.61.6.56

Articles June 2020

Quantification of RPE Changes in Choroideremia Using a Photoshop-Based Method

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Yi Zhai; Manlong Xu; Ioannis S. Dimopoulos; David G. Birch; Paul S. Bernstein; Jenny Holt; David Kirn; Peter Francis; Ian M. MacDonald
TAGS: choroideremia, bland-altman plot
Trans. Vis. Sci. Tech.. 2020; 9(7):21. https://doi.org/10.1167/tvst.9.7.21

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Investigating the Effect of a PEX6 Mutation on Peroxisome Metabolism

Matthew Benson; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4459.

ARVO Annual Meeting Abstract June 2020

Corneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation

Yi Zhai; Matthew Benson; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3023.

ARVO Annual Meeting Abstract June 2020

The natural history of choroideremia; progressive loss of visual function and retinal structure

David G Birch; Paul S Bernstein; Ian M MacDonald; Timothy Stout; David S Liao; Kirsten G Locke; Yi Zhai; Audra K Miller; Jenny Holt; Adia Jackson Leung; Somayeh Honarmand; Paul Jordan; Ulrich F O Luhmann; David H Kirn; Peter J Francis

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1908.

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. https://doi.org/10.1167/tvst.9.3.17

ARVO Annual Meeting Abstract July 2019

Visual Field Progression in Retinitis Pigmentosa

Manlong Xu; Yi Zhai; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4501.

ARVO Annual Meeting Abstract July 2019

Quantification of RPE changes in choroideremia using a Photoshop-based protocol

Yi Zhai; Manlong Xu; Ioannis Dimopoulos; David G Birch; Paul S Bernstein; Peter Francis; Jenny Holt; David Kirn; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6131.

ARVO Annual Meeting Abstract July 2019

Investigating the Effect of a PEX6 Mutation on Peroxisome Structure and Function

Matthew David Benson; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):406.

ARVO Annual Meeting Abstract July 2019

Whole Exome Sequencing of Unknown Retinal Disease Cases: The Alberta Perspective

Lance Patrick Doucette; Stephanie Hoang; alina radziwon; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2940.

ARVO Annual Meeting Abstract July 2019

Effect of Simvastatin on REP-1 Replacement Therapy in a Mouse Model of Choroideremia

Elena Posse de Chaves; Sarah Samuelson; Diego Ordoñez; Qian Wang; Chris St. Laurent; Ian M MacDonald; Yves Sauve

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3395.

ARVO Annual Meeting Abstract July 2019

Utilizing Zebrafish to Investigate RP1L1-Associated Retinitis Pigmentosa

Nicole CL Noel; Ian M MacDonald; W. Ted Allison

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3984.

ARVO Annual Meeting Abstract July 2019

A novel SVA retrotransposon insertion in CHM results in loss of REP-1 protein causing choroideremia

Kaylie Webb-Jones; alina radziwon; David G Birch; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):412.

Genetics September 2018

Crystals and Fatty Acid Abnormalities Are Not Present in Circulating Cells From Choroideremia Patients

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Alina Radziwon; Woo Jung Cho; Artur Szkotak; Miyoung Suh; Ian M. MacDonald
TAGS: choroideremia, crystal structure, fatty acids
Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4464-4470. https://doi.org/10.1167/iovs.18-25112

ARVO Annual Meeting Abstract July 2018

Mutations in RP1L1 are Associated with Stargardt Macular Degeneration

Nicole C L Noel; Jingyi Ma; Ian M MacDonald

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3142.

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Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

Natural history of the progression of choroideremia; 24-month follow-up

Five-year results after AAV2-REP1 gene therapy for choroideremia

How do RA and SLE patients differ while on long-term hydroxychloroquine therapy?

Validating Ellipsoid Zone Area Measurement With Multimodal Imaging in Choroideremia

Visual Field Progression in Retinitis Pigmentosa

Quantification of RPE Changes in Choroideremia Using a Photoshop-Based Method

Investigating the Effect of a PEX6 Mutation on Peroxisome Metabolism

Corneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation

The natural history of choroideremia; progressive loss of visual function and retinal structure

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

Visual Field Progression in Retinitis Pigmentosa

Quantification of RPE changes in choroideremia using a Photoshop-based protocol

Investigating the Effect of a PEX6 Mutation on Peroxisome Structure and Function

Whole Exome Sequencing of Unknown Retinal Disease Cases: The Alberta Perspective

Effect of Simvastatin on REP-1 Replacement Therapy in a Mouse Model of Choroideremia

Utilizing Zebrafish to Investigate RP1L1-Associated Retinitis Pigmentosa

A novel SVA retrotransposon insertion in CHM results in loss of REP-1 protein causing choroideremia

Crystals and Fatty Acid Abnormalities Are Not Present in Circulating Cells From Choroideremia Patients

Mutations in RP1L1 are Associated with Stargardt Macular Degeneration

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