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Meeting Abstract (8)
Journal Articles (4)

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Investigative Ophthalmology & Visual Science (10)
Translational Vision Science & Technology (2)

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ARVO Annual Meeting Abstract (8)
Articles (2)
Retina (2)

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Genetics (4)
Retina (4)
Eye Anatomy and Disorders (3)
Imaging (2)
Retinal Imaging (2)
Translational Research (2)

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diagnostic imaging (2)
phenotype (2)
electroretinography (1)
fenestration (1)
fundus autofluorescence imaging (1)
genetics (1)
macular disorders (1)
mutation (1)
optics (1)
parafoveal region (1)

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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

Phenotypic Spectrum of Retinal Degeneration in X-Linked PRPS1 -Related Retinopathy

Ogul Uner; Radwa Elsharawi; Margaret Reynolds; Giacomo Bacci; Sara Bargiacchi; Fred Chen; Nieraj Jain; Rachael C Heath Jeffery; Mariana Matioli de Palma; Juliana M F Sallum; Mariam Torres Soto; Kaylie D Webb-Jones; Paul Yang; Mark E Pennesi; Lesley Everett

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1702.

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

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

The Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study on behalf of the Foveal Development Investigators Group (FDIG)

Helen Kuht; Jinu Han; Line Kessel; Mies M. van Genderen; Richard W Hertle; Karen Gronskov; Vasily Smirnov; Fred Kuanfu Chen; Rachael C Heath Jeffery; Brian Patrick Brooks; Sasha Strul; Jin Jing; Martin Tobin; Irene Gottlob; Mervyn George Thomas

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1839.

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.

Articles December 2021

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy

PDF

Danial Roshandel; Rachael C. Heath Jeffery; Jason Charng; Danuta M. Sampson; Samuel McLenachan; David A. Mackey; Fred K. Chen
TAGS: parafoveal region, retinal cone, retinitis pigmentosa, diagnostic imaging
Trans. Vis. Sci. Tech.. 2021; 10(14):11. https://doi.org/10.1167/tvst.10.14.11

Includes: Supplemental Content

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

PDF

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

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