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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

ARVO Annual Meeting Abstract June 2022

Deep learning-based detection of Plus disease of Retinopathy of Prematurity

Robbert R. R. Struyven; Siegfried Wagner; Bart Liefers; Gongyu Zhang; Sophie Glinton; Madeline Kelly; Meera Radia; Jonathan Than; Shafi Balal; Charles Hennings; Pakinee Pooprasert; Nikolas Pontikos; Pearse Andrew Keane; Praveen Patel; Gillian Adams; Konstantinos Balaskas

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):212 – F0059. doi:

ARVO Annual Meeting Abstract June 2022

A refined amplification-free long-read sequencing method to interrogate TCF4 triplet repeats associated with Fuchs endothelial corneal dystrophy

Christina Zarouchlioti; Nathaniel Jordan Hafford-Tear; Yu-Chih Tsai; Anita Szabo; Nihar Bhattacharyya; Amanda Sadan; Alison J Hardcastle; Petra Liskova; Nikolas Pontikos; Stephen Tuft; Alice E Davidson

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2. doi:

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:

ARVO Annual Meeting Abstract June 2022

Exploring the p.Gly863Ala variant in ABCA4: the complex allele with p.Asn1868Ile is enriched in ABCA4-retinopathy patients compared to the general population

Mark Simcoe; Sandra Vermeirsch; Nikolas Pontikos; John Chiang; Christopher J Hammond; Pirro G Hysi; Michel Michaelides; Omar Abdul Rahman Mahroo; Andrew R Webster; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1590 – A0379. doi:

ARVO Annual Meeting Abstract June 2022

Risk of ischaemic stroke following diagnosis of proliferative diabetic retinopathy

William Waldock; Siegfried Wagner; Mario Cortina-Borja; NIKOLAS PONTIKOS; Axel Petzold; Jugnoo Rahi; Alastair K Denniston; Pearse Andrew Keane

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2187 – F0250. doi:

ARVO Annual Meeting Abstract June 2022

Association of retinal fractal dimension with incident cardiovascular events in a hospital-attending population in London, United Kingdom

Siegfried Wagner; Robbert Struyven; Mario Cortina-Borja; Alastair K Denniston; NIKOLAS PONTIKOS; Emanuele Trucco; Muthu Rama Krishnan Mookiah; Konstantinos Balaskas; Axel Petzold; Jugnoo Rahi; Pearse Andrew Keane

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2664. doi:

ARVO Annual Meeting Abstract June 2022

ABCA4 -alleles bearing two rare cis-variants comprise a significant proportion of those found in affected patients.

Maria Pilar Martin Gutierrez; Sandra Vermeirsch; Nikolas Pontikos; Mark Simcoe; Michel Michaelides; Gavin Arno; Omar Abdul Rahman Mahroo; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4295. doi:

ARVO Annual Meeting Abstract June 2022

Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using AI

NIKOLAS PONTIKOS; William Woof; Peter Krawitz; Gavin Arno; Kristina Hess; Malena Daich Varela; Bart Liefers; Thales Guimaraes; Mital Shah; Savita Madhusudhan; Susan M. Downes; Konstantinos Balaskas; Omar Abdul Rahman Mahroo; Frank G Holz; Michel Michaelides; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1161. doi:

ARVO Annual Meeting Abstract June 2021

Risk of myocardial infarction following diagnosis of a common ophthalmic disease: analysis of a longitudinal record-linkage study of over 350,000 patients from the UK.

Siegfried Wagner; Mario Cortina-Borja; Alastair K Denniston; Fintan Hughes; Nikolas Pontikos; Jugnoo Rahi; Pearse Keane

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):75. doi:

ARVO Annual Meeting Abstract June 2021

Prediction of Causative Genes in Inherited Retinal Disorders from Fundus photography and Fundus Autofluorescence Imaging Utilising Deep Learning Techniques

Yu Fujinami-Yokokawa; Hideki Ninomiya; Xiao liu; Lizhu Yang; Nikolas Pontikos; Kazutoshi Yoshitake; Takeshi Iwata; Yasunori Sato; Takeshi Hashimoto; Hiroaki Miyata; Kaoru Fujinami

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):91. doi:

ARVO Annual Meeting Abstract June 2021

Collaborative Development of a Novel Patient-centred App (MyEyeSite): Transforming Researcher Access to Rare Inherited Retinal Disease Data

Rose Gilbert; Dayyanah Sumodhee; Nikolas Pontikos; Catherine Hollyhead; Angus Patrick; Jocelyn Cammack; Sam Scarles; Sabrina Van Der Smissen; Rodrigo Young; Nick Nettleton; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):177. doi:

ARVO Annual Meeting Abstract June 2021

Mutational profile of the most common genes causing inherited retinal diseases in a large molecularly characterized cohort from the United Kingdom

Sandra Vermeirsch; Nikolas Pontikos; Samantha Malka; Michel Michaelides; Andrew Webster; Omar Abdul Rahman Mahroo; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1521. 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:

ARVO Annual Meeting Abstract June 2020

Automated classification of Retinopathy of Prematurity RetCam images using the Apple CreateML platform: gradeable versus ungradeable image classification

Konstantinos Balaskas; Pearse Andrew Keane; Siegfried Wagner; Gongyu Zhang; Livia Faes; Meera Radia; Nikolas Pontikos; Edward Korot; Gabriella Moraes; Hagar Khalid; Gill Adams

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2026. doi:

ARVO Annual Meeting Abstract June 2020

Ethnicity of pathogenic variants in the ABCA4 gene: analysis of allele frequency in the general population

Yu Fujinami-Yokokawa; Izumi Naka; Nikolas Pontikos; Gavin Arno; Lizhu Yang; XIAO LIU; Shiying Li; Se Joon Woo; Rene Moya; Kazushige Tsunoda; Hiroaki Miyata; Jun Ohashi; Rupert W. Strauss; Hendrik P Scholl; Michel Michaelides; Kaoru Fujinami

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2390. doi:

Letters to the Editor June 2020

Factors in Color Fundus Photographs That Can Be Used by Humans to Determine Sex of Individuals

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Simon Dieck; Miguel Ibarra; Ismail Moghul; Ming Wai Yeung; Jean Tori Pantel; Sarah Thiele; Maximilian Pfau; Monika Fleckenstein; Nikolas Pontikos; Peter M. Krawitz
TAGS: color, fundus photography
Trans. Vis. Sci. Tech.. 2020; 9(7):8. doi: https://doi.org/10.1167/tvst.9.7.8

Includes: Supplemental Content

Articles May 2020

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D -Associated Retinal Disorder

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Xiao Liu; Kaoru Fujinami; Kazuki Kuniyoshi; Mineo Kondo; Shinji Ueno; Takaaki Hayashi; Kiyofumi Mochizuki; Shuhei Kameya; Lizhu Yang; Yu Fujinami-Yokokawa; Gavin Arno; Nikolas Pontikos; Hiroyuki Sakuramoto; Taro Kominami; Hiroko Terasaki; Satoshi Katagiri; Kei Mizobuchi; Natsuko Nakamura; Kazutoshi Yoshitake; Yozo Miyake; Shiying Li; Toshihide Kurihara; Kazuo Tsubota; Takeshi Iwata; Kazushige Tsunoda; Japan Eye Genetics Consortium
TAGS: cohort studies, family, genetics, japanese, retinal diseases, phenotype, eye, visual acuity
Trans. Vis. Sci. Tech.. 2020; 9(6):2. doi: https://doi.org/10.1167/tvst.9.6.2

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

Genetics August 2019

Phenotypical Characteristics of POC1B -Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

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Shuhei Kameya; Kaoru Fujinami; Shinji Ueno; Takaaki Hayashi; Kazuki Kuniyoshi; Ryuichi Ideta; Sachiko Kikuchi; Daiki Kubota; Kazutoshi Yoshitake; Satoshi Katagiri; Hiroyuki Sakuramoto; Taro Kominami; Hiroko Terasaki; Lizhu Yang; Yu Fujinami-Yokokawa; Xiao Liu; Gavin Arno; Nikolas Pontikos; Yozo Miyake; Takeshi Iwata; Kazushige Tsunoda; for the Japan Eye Genetics Consortium
TAGS: cohort studies, cone dystrophy, eye, japanese, ophthalmology, ophthalmoscopy, retinal diseases, universities, spectral domain-optical coherence tomography, mutation
Invest. Ophthalmol. Vis. Sci.. 2019; 60(10):3432-3446. doi: https://doi.org/10.1167/iovs.19-26650

Includes: Supplemental Content

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

Deep learning-based detection of Plus disease of Retinopathy of Prematurity

A refined amplification-free long-read sequencing method to interrogate TCF4 triplet repeats associated with Fuchs endothelial corneal dystrophy

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

Exploring the p.Gly863Ala variant in ABCA4: the complex allele with p.Asn1868Ile is enriched in ABCA4-retinopathy patients compared to the general population

Risk of ischaemic stroke following diagnosis of proliferative diabetic retinopathy

Association of retinal fractal dimension with incident cardiovascular events in a hospital-attending population in London, United Kingdom

ABCA4 -alleles bearing two rare cis-variants comprise a significant proportion of those found in affected patients.

Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using AI

Risk of myocardial infarction following diagnosis of a common ophthalmic disease: analysis of a longitudinal record-linkage study of over 350,000 patients from the UK.

Prediction of Causative Genes in Inherited Retinal Disorders from Fundus photography and Fundus Autofluorescence Imaging Utilising Deep Learning Techniques

Collaborative Development of a Novel Patient-centred App (MyEyeSite): Transforming Researcher Access to Rare Inherited Retinal Disease Data

Mutational profile of the most common genes causing inherited retinal diseases in a large molecularly characterized cohort from the United Kingdom

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

Automated classification of Retinopathy of Prematurity RetCam images using the Apple CreateML platform: gradeable versus ungradeable image classification

Ethnicity of pathogenic variants in the ABCA4 gene: analysis of allele frequency in the general population

Factors in Color Fundus Photographs That Can Be Used by Humans to Determine Sex of Individuals

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D -Associated Retinal Disorder

Deep Phenotyping of PDE6C -Associated Achromatopsia

Phenotypical Characteristics of POC1B -Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

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