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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

S-cone electroretinograms recorded with a portable device in a series of patients with bi-allelic pathogenic variants in NR2E3

Talha Soorma; Clara Valor-Suarez; Xiaofan Jiang; Isabelle Chow; Shaun Leo; Chan Ning Lee; Gavin Arno; Christopher J Hammond; Andrew R Webster; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3791 – F0212. 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

Flicker electroretinogram peak times in over 1600 adult twins: distribution of times, associations with age and heritability

Xiaofan Jiang; Diana Kozareva; Talha Soorma; Isabelle Chow; Katie Williams; Andrew R Webster; John Robson; Pirro G Hysi; Christopher J Hammond; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):761 – F0413. 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

Cas9 targeted long-read nanopore sequencing of ABCA4 and the OPN1LW/OPN1MW gene array for investigation of inherited retinal disease

Gavin Arno; Neringa Jurkute; T. Christian Boles; Michel Michaelides; Omar Abdul Rahman Mahroo; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):516 – A0093. doi:

ARVO Annual Meeting Abstract June 2022

Functional investigation of candidate mis-splicing variants in retinal dystrophy genes using nanopore sequencing from patient blood samples

Neringa Jurkute; Jim Bellingham; Luca Varga; Michel Michaelides; Omar Abdul Rahman Mahroo; Susanne Roosing; Andrew R Webster; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):515 – A0092. doi:

ARVO Annual Meeting Abstract June 2022

Upstream variants causing reduced transcription and unusual presentation of recessive inherited retinal dystrophies

Jim Bellingham; Andrew R Webster; Fabiana Motta; Neringa Jurkute; Eva Lenassi; Graeme C Black; Jamie Ellingford; Omar Abdul Rahman Mahroo; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):514 – A0091. 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

Optimizing Variant Curation Guidelines to Improve Clinical Genetic Testing for RPE65 Retinopathies Utilizing the ClinGen Framework

Kristy Lee; Justyne Ross; William Hankey; Andrew R Webster; Lori S Sullivan; Jacque L Duncan; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2834 – A0350. doi:

ARVO Annual Meeting Abstract June 2022

Integrated multi-omics analysis to dissect a cis -regulatory role of ultraconserved non-coding elements (UCNEs) in human developing and adult retina

Víctor López-Soriano; Alfredo Dueñas Rey; Stijn Van de Sompele; Frauke Coppieters; Andrew R Webster; Miriam Bauwens; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2629. doi:

ARVO Annual Meeting Abstract June 2022

Association between statin use and retinal layer thicknesses in the UK Biobank

Christopher J Hammond; Mark Simcoe; Zakariya Jarrar; Gavin Arno; Pirro G Hysi; Andrew R Webster; Omar Abdul Rahman Mahroo; Praveen Patel

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2544 – A0113. 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:

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

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

Diminished light adaptation effect seen in cone-driven responses in GRK1 -associated Oguchi disease: evidence for possible rod input to cone adaptation pathways

ZIHE XU; Xiaofan Jiang; James Bellingham; Zakariya Jarrar; Christopher Hammond; Andrew R. Webster; Nigel Davies; Moin Mohamed; Gavin Arno; Pirro G Hysi; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5052. 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:

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Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

S-cone electroretinograms recorded with a portable device in a series of patients with bi-allelic pathogenic variants in NR2E3

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

Flicker electroretinogram peak times in over 1600 adult twins: distribution of times, associations with age and heritability

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

Cas9 targeted long-read nanopore sequencing of ABCA4 and the OPN1LW/OPN1MW gene array for investigation of inherited retinal disease

Functional investigation of candidate mis-splicing variants in retinal dystrophy genes using nanopore sequencing from patient blood samples

Upstream variants causing reduced transcription and unusual presentation of recessive inherited retinal dystrophies

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

Optimizing Variant Curation Guidelines to Improve Clinical Genetic Testing for RPE65 Retinopathies Utilizing the ClinGen Framework

Integrated multi-omics analysis to dissect a cis -regulatory role of ultraconserved non-coding elements (UCNEs) in human developing and adult retina

Association between statin use and retinal layer thicknesses in the UK Biobank

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

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

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

Diminished light adaptation effect seen in cone-driven responses in GRK1 -associated Oguchi disease: evidence for possible rod input to cone adaptation pathways

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

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