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ARVO Annual Meeting Abstract June 2025

A natural history study of HK1- associated retinopathy due to the c.2539G>A (p.Glu847Lys) variant

Elaine Ong; Jennifer A Thompson; Tina M Lamey; Enid Chelva; Terri L McLaren; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3172.

ARVO Annual Meeting Abstract June 2025

Full-field and pattern electroretinography of ABCA4- versus PRPH2 -associated fleck retinopathy: An international multicentre study

Fred Kuanfu Chen; Rachael C Heath Jeffery; Camiel J.F. Boon; Jonathan Hensman; Lorenzo Bianco; Maurizio Battaglia Parodi; Lucia Ziccardi; Giulio Antonelli; Enid Chelva; Jennifer A Thompson; Tina M Lamey; Terri L McLaren; Andrea L Vincent

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5589.

Immunology and Microbiology February 2025

Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

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Lude Moekotte; Joke H. de Boer; Sanne Hiddingh; Aafke de Ligt; Xuan-Thanh-An Nguyen; Carel B. Hoyng; Chris F. Inglehearn; Martin McKibbin; Tina M. Lamey; Jennifer A. Thompson; Fred K. Chen; Terri L. McLaren; Alaa AlTalbishi; Daan M. Panneman; Erica G. M. Boonen; Sandro Banfi; Béatrice Bocquet; Isabelle Meunier; Elfride De Baere; Robert Koenekoop; Monika Ołdak; Carlo Rivolta; Lisa Roberts; Raj Ramesar; Rasa Strupaitė-Šileikienė; Susanne Kohl; G. Jane Farrar; Marion van Vugt; Jessica van Setten; Susanne Roosing; L. Ingeborgh van den Born; Camiel J. F. Boon; Maria M. van Genderen; Jonas J. W. Kuiper
TAGS: complement system proteins, hereditary retinal dystrophy, plasma, proteins, genotype, proteome, genes
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):55. https://doi.org/10.1167/iovs.66.2.55

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Novel clinical observations and genetic spectrum in 241 patients with PRPH2 -associated retinopathy.

Rachael C Heath Jeffery; Andrea L Vincent; Jennifer Thompson; Johnny Lo; Enid Chelva; Sean Armstrong; Tina Lamey; Samuel McLenachan; Danial Roshandel; Terri McLaren; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):454.

ARVO Annual Meeting Abstract June 2024

Interocular progression in retinitis pigmentosa: A 10-year follow-up study

Alexis Ceecee Britten-Jones; Chi D Luu; Jasleen K Jolly; Carla J Abbott; Penelope J Allen; Tina Lamey; Terri McLaren; Jennifer Thompson; John De Roach; Thomas L Edwards; Lauren N Ayton

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3088.

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

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.

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.

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

ARVO Annual Meeting Abstract June 2020

Cross-sectional and longitudinal analyses of microperimetry in USH2A -related retinitis pigmentosa

Jason Charng; Tina Lamey; Jen Thompson; Terri Mclaren; Mary Attia; John De Roach; David A Mackey; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3384.

ARVO Annual Meeting Abstract July 2019

Delayed differentiation of retinal organoids derived from a patient with CRB1 -associated retinitis pigmentosa.

Xiao Zhang; Samuel McLenachan; Dan Zhang; Shang-Chih Chen; Sukanya Arunachalam; Jennifer A. Thompson; Terri McLaren; Tina Lamey; John De Roach; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2866.

ARVO Annual Meeting Abstract July 2019

Utilising patient-specific retinal organoids to investigate the role of SNRNP200 variants of unknown significance in severe early onset retinitis pigmentosa

Carla Bernadette Mellough; Mariska Ackerman; Jennifer A Thompson; John De Roach; Terri McLaren; Tina Lamey; Anthony Akkari; Ramesh Ram; Shay Leary; Abha Chopra; Shang-Chih Chen; Dan Zhang; Samuel McLenachan; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2868.

ARVO Annual Meeting Abstract July 2019

Optical coherence tomography derived macular volume loss over 5 years in Stargardt disease

Fred Kuanfu Chen; Sukanya Arunachalam; Natasha Vallis; Di Huang; Yi Chen; Jennifer A. Thompson; Terri McLaren; Tina Lamey; John De Roach; Samuel McLenachan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4521.

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A natural history study of HK1- associated retinopathy due to the c.2539G>A (p.Glu847Lys) variant

Full-field and pattern electroretinography of ABCA4- versus PRPH2 -associated fleck retinopathy: An international multicentre study

Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

Novel clinical observations and genetic spectrum in 241 patients with PRPH2 -associated retinopathy.

Interocular progression in retinitis pigmentosa: A 10-year follow-up study

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

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

Natural history of PRPF31 -associated retinopathy: multimodal imaging findings

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

Cross-sectional and longitudinal analyses of microperimetry in USH2A -related retinitis pigmentosa

Delayed differentiation of retinal organoids derived from a patient with CRB1 -associated retinitis pigmentosa.

Utilising patient-specific retinal organoids to investigate the role of SNRNP200 variants of unknown significance in severe early onset retinitis pigmentosa

Optical coherence tomography derived macular volume loss over 5 years in Stargardt disease

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