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Retina May 2024

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

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Rachael C. Heath Jeffery; Jennifer A. Thompson; Johnny Lo; Enid S. Chelva; Sean Armstrong; Jose S. Pulido; Rebecca Procopio; Andrea L. Vincent; Lorenzo Bianco; Maurizio Battaglia Parodi; Lucia Ziccardi; Giulio Antonelli; Lucilla Barbano; João P. Marques; Sara Geada; Ana L. Carvalho; Wei C. Tang; Choi M. Chan; Camiel J. F. Boon; Jonathan Hensman; Ta-Ching Chen; Chien-Yu Lin; Pei-Lung Chen; Ajoy Vincent; Anupreet Tumber; Elise Heon; John R. Grigg; Robyn V. Jamieson; Elisa E. Cornish; Benjamin M. Nash; Shyamanga Borooah; Lauren N. Ayton; Alexis Ceecee Britten-Jones; Thomas L. Edwards; Jonathan B. Ruddle; Abhishek Sharma; Rowan G. Porter; Tina M. Lamey; Terri L. McLaren; Samuel McLenachan; Danial Roshandel; Fred K. Chen
TAGS: genetics, phenotype, retinal dystrophies, fundus autofluorescence imaging, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2024; 65(5):22. https://doi.org/10.1167/iovs.65.5.22

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

CRISPR activation of endogenous CRB1 expression in fibroblasts from retinitis pigmentosa 12 patients

Sang Yoon Moon; Dan Zhang; Shang-Chih Chen; Tina M Lamey; Jennifer A Thompson; Terri L McLaren; John N DeRoach; Fred K Chen; Samuel McLenachan

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):753.

Retina January 2023

Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers

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Danial Roshandel; Tina M. Lamey; Jason Charng; Rachael C. Heath Jeffery; Terri L. McLaren; Jennifer A. Thompson; John N. De Roach; Samuel McLenachan; David A. Mackey; Fred K. Chen
TAGS: diagnostic imaging, mutation, optics
Invest. Ophthalmol. Vis. Sci.. 2023; 64(1):3. https://doi.org/10.1167/iovs.64.1.3

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2022

A natural history study of functional and structural outcome measures in PRPH2 -associated retinal dystrophy

Rachael C Heath Jeffery; Jennifer A. Thompson; Ian Constable; Ian McAllister; Terri L. McLaren; John N. De Roach; Tina M. Lamey; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):500 – A0077.

ARVO Annual Meeting Abstract June 2022

Detection of mutant RP1 protein by HiBiT-tagging of patient derived retinal organoids

Sang Yoon Moon; Dan Zhang; Shang-Chih Chen; Tina M. Lamey; Jennifer A. Thompson; Terri L. McLaren; John N. De Roach; Fred Kuanfu Chen; Samuel McLenachan

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2426 – F0370.

ARVO Annual Meeting Abstract June 2022

Localised cone density and retinal sensitivity changes in female carriers of RPGR mutations

Danial Roshandel; Tina M. Lamey; Jason Charng; Rachael C Heath Jeffery; Terri L. McLaren; Jennifer A. Thompson; John N. De Roach; Samuel McLenachan; David A. Mackey; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4478 – F0265.

ARVO Annual Meeting Abstract June 2021

Ultra-widefield fundus autofluorescence derived atrophy expansion rate in ABCA4 -associated retinopathy is dependent on mutation severity

Rachael C Heath Jeffery; Jennifer A. Thompson; Johnny Lo; Tina M. Lamey; Terri L. McLaren; Ian L McAllister; David A Mackey; Ian Constable; John N. De Roach; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1552.

ARVO Annual Meeting Abstract June 2021

Natural history of PRPF31 -associated retinopathy: multimodal imaging findings

Danial Roshandel; Jennifer A. Thompson; Rachael C Heath Jeffery; Dan Zhang; Tina M. Lamey; Terri L. McLaren; John N. De Roach; Samuel McLenachan; David A Mackey; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3207.

ARVO Annual Meeting Abstract June 2021

Using induced pluripotent stem cell-derived retinal pigment epithelial cells to model splicing defects of ABCA4 c.5461-10T>C detected in an Australian Stargardt disease cohort

Di Huang; Jennifer A. Thompson; Samuel McLenachan; Shang-Chih Chen; Dan Zhang; Rachael C Heath Jeffery; Mary Attia; Terri L. McLaren; Tina M. Lamey; John N. De Roach; May Thandar Aung-Htut; Abbie Adams; Sue Fletcher; Steve Wilton; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3294.

Articles February 2021

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1 -Associated Retinopathies

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Danial Roshandel; Jennifer A. Thompson; Rachael C. Heath Jeffery; Danuta M. Sampson; Enid Chelva; Terri L. McLaren; Tina M. Lamey; John N. De Roach; Shane R. Durkin; Fred K. Chen
TAGS: macular disorders, phenotype, retinal diseases, retinal imaging, surrogate endpoints, volume, spectral domain-optical coherence tomography, fenestration
Trans. Vis. Sci. Tech.. 2021; 10(2):38. https://doi.org/10.1167/tvst.10.2.38

Includes: Supplemental Content

Articles September 2020

Edge of Scotoma Sensitivity as a Microperimetry Clinical Trial End Point in USH2A Retinopathy

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Jason Charng; Tina M. Lamey; Jennifer A. Thompson; Terri L. McLaren; Mary S. Attia; Ian L. McAllister; Ian J. Constable; David A. Mackey; John N. De Roach; Fred K. Chen
TAGS: eye, retinal diseases, scotoma
Trans. Vis. Sci. Tech.. 2020; 9(10):9. https://doi.org/10.1167/tvst.9.10.9

Includes: Supplemental Content

Genetics September 2018

Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort

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John P. W. Chiang; Tina M. Lamey; Nicholas K. Wang; Jie Duan; Wei Zhou; Terri L. McLaren; Jennifer A. Thompson; Jonathan Ruddle; John N. De Roach

Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4434-4440. https://doi.org/10.1167/iovs.18-24555

ARVO Annual Meeting Abstract July 2018

High Throughput Clinical Testing of RPGR ORF15 Mutations in Patients with Inherited Retinal Dystrophy

John (P-W) Chiang; Tina, M Lamey; Jie Duan; Nicholas Wang; Terri L McLaren; Jennifer A Thompson; Jonathan Ruddle; John N De Roach

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2330.

ARVO Annual Meeting Abstract April 2014

Variation in the L and M cone opsin genes as a causative factor in myopia

Jessica Kate Mountford; Wayne I Davies; John N De Roach; Terri L McLaren; Tina M Lamey; David A Mackey; David M Hunt

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1350.

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Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

CRISPR activation of endogenous CRB1 expression in fibroblasts from retinitis pigmentosa 12 patients

Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers

A natural history study of functional and structural outcome measures in PRPH2 -associated retinal dystrophy

Detection of mutant RP1 protein by HiBiT-tagging of patient derived retinal organoids

Localised cone density and retinal sensitivity changes in female carriers of RPGR mutations

Ultra-widefield fundus autofluorescence derived atrophy expansion rate in ABCA4 -associated retinopathy is dependent on mutation severity

Natural history of PRPF31 -associated retinopathy: multimodal imaging findings

Using induced pluripotent stem cell-derived retinal pigment epithelial cells to model splicing defects of ABCA4 c.5461-10T>C detected in an Australian Stargardt disease cohort

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1 -Associated Retinopathies

Edge of Scotoma Sensitivity as a Microperimetry Clinical Trial End Point in USH2A Retinopathy

Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort

High Throughput Clinical Testing of RPGR ORF15 Mutations in Patients with Inherited Retinal Dystrophy

Variation in the L and M cone opsin genes as a causative factor in myopia

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