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Retina September 2022

Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography

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Sophie L. Glinton; Antonio Calcagni; Watjana Lilaonitkul; Nikolas Pontikos; Sandra Vermeirsch; Gongyu Zhang; Gavin Arno; Siegfried K. Wagner; Michel Michaelides; Pearse A. Keane; Andrew R. Webster; Omar A. Mahroo; Anthony G. Robson
TAGS: electroretinography, machine learning, retinal diseases, abca4 gene, phenotype, phenotype determination
Trans. Vis. Sci. Tech.. 2022; 11(9):34. doi: https://doi.org/10.1167/tvst.11.9.34

Includes: Supplemental Content

Retina June 2022

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

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Katie M. Williams; Michalis Georgiou; Angelos Kalitzeos; Isabelle Chow; Pirro G. Hysi; Anthony G. Robson; Gareth Lingham; Fred K. Chen; David A. Mackey; Andrew R. Webster; Christopher J. Hammond; Polina Prokhoda; Joseph Carroll; Michel Michaelides; Omar A. Mahroo
TAGS: advanced life support, amyotrophic lateral sclerosis, antilymphocyte globulin, cohort studies, oculocutaneous albinism type 2, retinal diseases, albinism, abca4 gene, eye
Invest. Ophthalmol. Vis. Sci.. 2022; 63(6):15. doi: https://doi.org/10.1167/iovs.63.6.15

ARVO Annual Meeting Abstract June 2022

The Impact of Specific ABCA4 Variants on Retinal Function Using Regression Analysis of Electroretinography Data in a Large Patient Cohort

Sophie Glinton; Antonio Calcagni; Nikolas Pontikos; Sandra Vermeirsch; Gavin Arno; Pearse Andrew Keane; Michel Michaelides; Andrew R Webster; Watjana Lilaonitkul; Omar Abdul Rahman Mahroo; Anthony G Robson

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):618 – A0333. doi:

Genetics December 2021

SSBP1 -Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

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Neringa Jurkute; Fabiana D'Esposito; Anthony G. Robson; Robert D. S. Pitceathly; Francesca Cordeiro; F. Lucy Raymond; Anthony T. Moore; Michel Michaelides; Patrick Yu-Wai-Man; Andrew R. Webster; Gavin Arno; for the Genomics England Research Consortium
TAGS: family, genetics, optic atrophy, penetrance, genetic, phenotype, proteins, recessive inheritance, retinal dystrophies, dna, mitochondrial, phenotype determination
Invest. Ophthalmol. Vis. Sci.. 2021; 62(15):12. doi: https://doi.org/10.1167/iovs.62.15.12

ARVO Annual Meeting Abstract June 2021

A Comparison of Xenon- and LED-based Full-field Electroretinography in Patients with ABCA4-related Macular Dystrophy

Antonio Calcagni; Sophie L Glinton; Pearse A Keane; Michel Michaelides; Andrew Webster; Omar Abdul Rahman Mahroo; Anthony G Robson

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):604. doi:

ARVO Annual Meeting Abstract June 2021

The Heritability of Different Photopic Negative Response Components Explored in a Twin Study

Shaun Leo; Xiaofan Jiang; Taha Bhatti; Ambreen Tariq; Ting Shen; Katie Williams; Anthony G Robson; Pirro G Hysi; Christopher J Hammond; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):613. doi:

ARVO Annual Meeting Abstract June 2021

Machine Learning for Classification of Functional Phenotypes in Stargardt Disease from Full-Field Electroretinography

Sophie Lorraine Glinton; Antonio Calcagni; Gongyu Zhang; Nikolas Pontikos; Watjana Lilaonitkul; Salil Patel; Siegfried Wagner; Michel Michaelides; Pearse Keane; Andrew Webster; Anthony G Robson; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2123. doi:

Genetics May 2021

Expanding the FDXR -Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

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Neringa Jurkute; Priya D. Shanmugarajah; Marios Hadjivassiliou; Jenny Higgs; Miodrag Vojcic; Iain Horrocks; Yann Nadjar; Valerie Touitou; Guy Lenaers; Roy Poh; James Acheson; Anthony G. Robson; F. Lucy Raymond; Mary M. Reilly; Patrick Yu-Wai-Man; Anthony T. Moore; Andrew R. Webster; Gavin Arno; for the Genomics England Research Consortium
TAGS: family, optic atrophy, phenotype, recurrence, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2021; 62(6):2. doi: https://doi.org/10.1167/iovs.62.6.2

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

The clinical and genetic characteristics of patients with biallelic RLBP1 -mediated retinopathy

Emma Sara Duignan; Anthony G Robson; Elena Schiff; Genevieve Wright; Hannah Knight; Michel Michaelides; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1952. doi:

ARVO Annual Meeting Abstract June 2020

Ceramide synthase TLCD3B as a novel gene associated with human recessive cone-rod dystrophy and maculopathy

Rui Chen; Renae Elaine Bertrand; Jun Wang; Kaitlyn H. Xiong; Chinthana Thangavel; Xinye Qian; Rola Ba-Abbad; Renata Simoes; Shirley Aparecida Madureira Sampaio; Keren J. Carss; F. Lucy Raymond; Anthony G Robson; Yumei Li; Andrew R. Webster; Gavin Arno; Fernanda Belga Ottoni Porto

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1953. doi:

ARVO Annual Meeting Abstract June 2020

Exploring rod system dysfunction in patients with CRX -associated retinopathy

Rola Ba-Abbad; Shaun Leo; Xiaofan Jiang; Isabelle Chow; Mathura Indusegaran; Christopher Hammond; Michel Michaelides; Andrew R. Webster; Anthony G Robson; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3989. doi:

ARVO Annual Meeting Abstract June 2020

Tracking Slowed Dark Adaptation Dynamically in Vitamin A deficiency and retinal disease by electroretinogram

Xiaofan Jiang; Shaun Leo; Isabelle Chow; Mathura Indusegaran; Anthony G Robson; Andrew R. Webster; Christopher Hammond; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5053. doi:

Retina March 2020

Photoreceptor Structure in GNAT2 -Associated Achromatopsia

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Michalis Georgiou; Navjit Singh; Thomas Kane; Anthony G. Robson; Angelos Kalitzeos; Nashila Hirji; Andrew R. Webster; Alfredo Dubra; Joseph Carroll; Michel Michaelides
TAGS: achromatopsia, diagnostic imaging, mosaicism, phenotype determination, photoreceptors, retinal cone, eye, color vision, spectral domain-optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2020; 61(3):40. doi: https://doi.org/10.1167/iovs.61.3.40

Includes: Supplemental Content

Genetics December 2019

Deep Phenotyping of PDE6C -Associated Achromatopsia

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Michalis Georgiou; Anthony G. Robson; Navjit Singh; Nikolas Pontikos; Thomas Kane; Nashila Hirji; Caterina Ripamonti; Tryfon Rotsos; Alfredo Dubra; Angelos Kalitzeos; Andrew R. Webster; Joseph Carroll; Michel Michaelides
TAGS: achromatopsia, diagnostic imaging, electroretinography, eye, fundus autofluorescence imaging, mosaicism, phenotype determination, retinal cone, spectral domain-optical coherence tomography, pathologic nystagmus
Invest. Ophthalmol. Vis. Sci.. 2019; 60(15):5112-5123. doi: https://doi.org/10.1167/iovs.19-27761

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Age-related changes in ERG and genotype-phenotype comparison in patients with achromatopsia.

Anthony G Robson; Shaheeni Khoda; Selma Lewis; Magella Neveu; Antonio Calcagni; Andrew Webster; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4514. doi:

ARVO Annual Meeting Abstract July 2019

Clinical and molecular characterization of autosomal recessive and X-linked incomplete congenital stationary night blindness

Rola Ba-Abbad; Gavin Arno; Omar Abdul Rahman Mahroo; Michel Michaelides; Andrew Webster; Anthony G Robson

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5950. doi:

ARVO Annual Meeting Abstract July 2019

Deep Phenotyping of PDE6C -Associated Retinopathy

Michalis Georgiou; Anthony G Robson; Nashila Hirji; Navjit Singh; Thomas Kane; Alfredo Dubra; Joseph Carroll; Andrew Webster; Angelos Kalitzeos; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5167. doi:

ARVO Annual Meeting Abstract July 2019

Leber Congenital Amaurosis associated with GUCY2D variants: A Retrospective Natural History Study in preparation for future Therapies.

ZAINA Ibrahim BOUZIA; Michalis Georgiou; Sarah Hull; Anthony G Robson; Andrew Webster; Alison J Hardcastle; Alessia Fiorentino; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5421. doi:

ARVO Annual Meeting Abstract June 2017

Complex interaction and Hardy-Weinberg disequilibrium of ABCA4 disease-causing alleles provides insights into the pathogenesis of retinopathy

Ana Fakin; Valentina Cipriani; Stanley Lambertus; Nathalie Bax; Anthony G Robson; Kaoru Fujinami; John Chiang; Anthony T Moore; Michel Michaelides; Graham E Holder; Carel C B Hoyng; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3423. doi:

ARVO Annual Meeting Abstract June 2017

Electrophysiological Characterization of Macular Telangiectasia Type 2 (MacTel)

Mali Okada; Anthony G Robson; Catherine A Egan; Ferenc Sallo; Simona Degli Esposti; Tjebo FC Heeren; Graham E Holder

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4886. doi:

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Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

The Impact of Specific ABCA4 Variants on Retinal Function Using Regression Analysis of Electroretinography Data in a Large Patient Cohort

SSBP1 -Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

A Comparison of Xenon- and LED-based Full-field Electroretinography in Patients with ABCA4-related Macular Dystrophy

The Heritability of Different Photopic Negative Response Components Explored in a Twin Study

Machine Learning for Classification of Functional Phenotypes in Stargardt Disease from Full-Field Electroretinography

Expanding the FDXR -Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

The clinical and genetic characteristics of patients with biallelic RLBP1 -mediated retinopathy

Ceramide synthase TLCD3B as a novel gene associated with human recessive cone-rod dystrophy and maculopathy

Exploring rod system dysfunction in patients with CRX -associated retinopathy

Tracking Slowed Dark Adaptation Dynamically in Vitamin A deficiency and retinal disease by electroretinogram

Photoreceptor Structure in GNAT2 -Associated Achromatopsia

Deep Phenotyping of PDE6C -Associated Achromatopsia

Age-related changes in ERG and genotype-phenotype comparison in patients with achromatopsia.

Clinical and molecular characterization of autosomal recessive and X-linked incomplete congenital stationary night blindness

Deep Phenotyping of PDE6C -Associated Retinopathy

Leber Congenital Amaurosis associated with GUCY2D variants: A Retrospective Natural History Study in preparation for future Therapies.

Complex interaction and Hardy-Weinberg disequilibrium of ABCA4 disease-causing alleles provides insights into the pathogenesis of retinopathy

Electrophysiological Characterization of Macular Telangiectasia Type 2 (MacTel)

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