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ARVO Annual Meeting Abstract June 2024

Ciliopathy pathways and biomarkers in IRD variant characterisation and therapy steps in retinal organoids

Robyn V Jamieson; To Ha Loi; Anson Cheng; Anai Gonzalez-Cordero; John R Grigg; Nader Aryamanesh; Hani Kim; Pengyi Yang; Benjamin Nash

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1546.

ARVO Annual Meeting Abstract June 2024

Safety, Tolerability, and Efficacy of Tinlarebant from the 24-Month Phase 2 study in Adolescent Patients Affected by Stargardt Disease

John R Grigg; Fred Chen; Ta-Ching Chen; Robyn V Jamieson; Hendrik P Scholl; Michel Michaelides; Jana Zernant; Rando Allikmets; Quan Dong Nguyen; Nathan L Mata

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1026.

ARVO Annual Meeting Abstract June 2024

Solving cryptic variants in the inherited retinal dystrophies (IRDs)

Robyn V Jamieson

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3898.

ARVO Annual Meeting Abstract June 2024

Longitudinal study of PROM1 IRD variants and review of the literature

William Yates; Benjamin Nash; John R Grigg; Robyn V Jamieson

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4731.

ARVO Annual Meeting Abstract June 2024

KCNV2 -associated retinopathy natural history and biomarkers using an extended KCNV electrophysiology testing protocol.

Elisa Eleanor Cornish; Dhimas H Sakti; Haipha Ali; Stephanie Retsas; Noona Saakova; Marium Raza; Livia S Carvalho; Benjamin Nash; Robyn V Jamieson; John R Grigg

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5273.

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

IMPDH1 -associated retinitis pigmentosa: natural history and comparison to literature

Dhimas Hari Sakti; Elisa Eleanor Cornish; Benjamin M Nash; Robyn V Jamieson; John R Grigg

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4651.

ARVO Annual Meeting Abstract June 2023

Expanding the phenotype of genetically associated electronegative ERG retinopathies: Comparing the full field ERG b:a ratio

Chris Ovens; Vannessa Leung; Elisa Eleanor Cornish; Dhimas Hari Sakti; Stephanie Retsas; Haipha Ali; Peter J McCluskey; Robyn V Jamieson; John R Grigg

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5215.

ARVO Annual Meeting Abstract June 2023

Human stem cell-derived retinal organoids to resolve novel missense and intronic variants of uncertain significance and test novel therapies in the inherited retinal dystrophies

Robyn V Jamieson; To Ha Loi; Fidelle Chahine Karam; John R Grigg; Anson Cheng; Benjamin M Nash

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):479.

ARVO Annual Meeting Abstract June 2023

A Phase 1b/2 Study of the Safety and Tolerability of Tinlarebant in Adolescent Patients Affected by Stargardt Disease– 15 month preliminary data

John R Grigg; Fred Kuanfu Chen; Ta-Ching Chen; Robyn V Jamieson; Hendrik P Scholl; Nathan L Mata; Quan Dong Nguyen

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2597.

ARVO Annual Meeting Abstract June 2022

GUCY2D-associated autosomal dominant cone-rod dystrophy: Understanding the natural history

Amanda J Scopelliti; Robyn V Jamieson; Elizabeth H Barnes; John R Grigg

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):488 – A0065.

ARVO Annual Meeting Abstract June 2022

A Phase 1b/2 Study of the Safety and Tolerability of Tinlarebant in Adolescent STGD1 Subjects

John R Grigg; Fred Kuanfu Chen; Ta-Ching Chen; Robyn V Jamieson; Nathan L Mata; Webber Liao

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3518.

ARVO Annual Meeting Abstract June 2021

Ocular Characteristic in a Cohort of Neuronal Ceroid Lipofuscinoses/ Batten Disease Patients

Elisa Eleanor Cornish; Dhimas Hari Sakti; Clare Fraser; Trent Sandercoe; Michael M Jones; Neil A Rowe; Robyn V Jamieson; John R Grigg

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):618.

ARVO Annual Meeting Abstract June 2021

Incidence of electronegative findings in tertiary ophthalmology referral centre

Dhimas Hari Sakti; Haipha Ali; Maria Korsakova; Nonna Saakova; Nina Mustafic; Clare Fraser; Robyn V Jamieson; Elisa Eleanor Cornish; John R Grigg

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):614.

Articles December 2020

Assessing Residual Cone Function in Retinitis Pigmentosa Patients

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Tasneem A. Arsiwalla; Elisa E. Cornish; Phuc Vuong Nguyen; Maria Korsakova; Haipha Ali; Nonna Saakova; Clare L. Fraser; Robyn V. Jamieson; John R. Grigg

Trans. Vis. Sci. Tech.. 2020; 9(13):29. https://doi.org/10.1167/tvst.9.13.29

ARVO Annual Meeting Abstract June 2020

Biomarkers to monitor progression in MERTK retinopathy

Elisa Eleanor Cornish; Nina Mustafic; Dhimas Hari Sakti; Afsah Zaheer; Stephanie Retsas; Robyn V Jamieson; John R Grigg

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1906.

ARVO Annual Meeting Abstract June 2020

ROSAH syndrome, a multisystem retinal disorder due to ALPK1 mutation: ophthalmic progression, systemic and inflammatory features

Robyn V Jamieson; Amin Sabri; Anson Cheng; Nina Mustafic; Steven Eamegdool; John R Grigg

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4473.

ARVO Annual Meeting Abstract July 2019

Assessing residual cone function in Retinitis Pigmentosa: electrophysiological and optical coherence tomography findings and correlation with visual acuity

Tasneem Arsiwalla; Elisa Eleanor Cornish; Vuong Nguyen; Robyn V Jamieson; John R Grigg

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4525.

ARVO Annual Meeting Abstract July 2018

Morpho-functional links in Usher Syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings

Nina Mustafic; Federica Ristoldo; Alessandro Invernizzi; Robyn V Jamieson; John R Grigg

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):49.

ARVO Annual Meeting Abstract July 2018

Microphthalmia, coloboma and WNT signalling

Steven Eamegdool; To Ha Loi; Anson Cheng; Robyn V Jamieson

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5411.

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Ciliopathy pathways and biomarkers in IRD variant characterisation and therapy steps in retinal organoids

Safety, Tolerability, and Efficacy of Tinlarebant from the 24-Month Phase 2 study in Adolescent Patients Affected by Stargardt Disease

Solving cryptic variants in the inherited retinal dystrophies (IRDs)

Longitudinal study of PROM1 IRD variants and review of the literature

KCNV2 -associated retinopathy natural history and biomarkers using an extended KCNV electrophysiology testing protocol.

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

IMPDH1 -associated retinitis pigmentosa: natural history and comparison to literature

Expanding the phenotype of genetically associated electronegative ERG retinopathies: Comparing the full field ERG b:a ratio

Human stem cell-derived retinal organoids to resolve novel missense and intronic variants of uncertain significance and test novel therapies in the inherited retinal dystrophies

A Phase 1b/2 Study of the Safety and Tolerability of Tinlarebant in Adolescent Patients Affected by Stargardt Disease– 15 month preliminary data

GUCY2D-associated autosomal dominant cone-rod dystrophy: Understanding the natural history

A Phase 1b/2 Study of the Safety and Tolerability of Tinlarebant in Adolescent STGD1 Subjects

Ocular Characteristic in a Cohort of Neuronal Ceroid Lipofuscinoses/ Batten Disease Patients

Incidence of electronegative findings in tertiary ophthalmology referral centre

Assessing Residual Cone Function in Retinitis Pigmentosa Patients

Biomarkers to monitor progression in MERTK retinopathy

ROSAH syndrome, a multisystem retinal disorder due to ALPK1 mutation: ophthalmic progression, systemic and inflammatory features

Assessing residual cone function in Retinitis Pigmentosa: electrophysiological and optical coherence tomography findings and correlation with visual acuity

Morpho-functional links in Usher Syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings

Microphthalmia, coloboma and WNT signalling

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