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Genetics February 2024

PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease

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Malena Daich Varela; Elena Schiff; Samantha Malka; Genevieve Wright; Omar A. Mahroo; Andrew R. Webster; Michel Michaelides; Gavin Arno
TAGS: attenuation, exons, refsum disease, phytanic acid, rna splicing, reading (activity)
Invest. Ophthalmol. Vis. Sci.. 2024; 65(2):38. https://doi.org/10.1167/iovs.65.2.38

Includes: Supplemental Content

Retina June 2023

An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank

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Mark J. Simcoe; Gavin Arno; Pirro G. Hysi; Tony Ko; Michel Michaelides; Christopher J. Hammond; Praveen J. Patel; Omar A. Mahroo; Andrew R. Webster; for the UK Biobank Eye and Vision Consortium*
TAGS: abca4 gene, biobanks, genotype, mutation, retina, retinal diseases, alleles, cohort studies, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2023; 64(7):31. https://doi.org/10.1167/iovs.64.7.31

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX -associated retinopathy

Siying Lin; Gavin Arno; Anthony G Robson; Moin Mohamed; Michel Michaelides; Andrew Webster; Omar Mahroo

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1546.

ARVO Annual Meeting Abstract June 2023

Residual Neuropathy Target Esterase activity predicts retinopathy among PNPLA6 disorders

James Liu; Yi He; Chisom Madu; Lijin Dong; Marina Han; Cara Lwin; Gavin Arno; Anthony Moore; Andrew R Webster; Michel Michaelides; Laryssa Huryn; Bin Guan; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):578.

ARVO Annual Meeting Abstract June 2023

Comparison of central foveal signal intensity obtained in two autofluorescence modalities in CNGB3 -associated achromatopsia

Chun Fung Jeffrey Lam; Gavin Arno; Andrew R Webster; Michel Michaelides; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2076.

ARVO Annual Meeting Abstract June 2023

A systematic approach to characterize the contribution of 5’UTR variation to inherited retinal disease

Alfredo Dueñas Rey; Manon Bouckaert; Marta Del Pozo Valero; Marieke De Bruyne; Mattias Van Heetvelde; Jamie Ellingford; Gavin Arno; Andrew R Webster; Carmen Ayuso; Carlo Rivolta; Bart Peter Leroy; Miriam Bauwens; Julie De Zaeytijd; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2851.

ARVO Annual Meeting Abstract June 2023

Electrophysiological and clinical assessment of patients with pathogenic biallelic NSUN3 variants.

Anthony G Robson; Neringa Jurkute; Lindsey Van Haute; Axel Petzold; Enrico Bugiardini; James Acheson; William Macken; Robert DS Pitceathly; Andrew R Webster; Michal Minczuk; Gavin Arno; Patrick Yu-Wai-Man

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4119.

ARVO Annual Meeting Abstract June 2023

IMPG2 -related maculopathy

Johannes Birtel; Richard Caswell; Samantha R De Silva; Philipp Herrmann; Salwah Rehman; Andrew J Lotery; Omar Abdul Rahman Mahroo; Michel Michaelides; Andrew R Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4643.

ARVO Annual Meeting Abstract June 2023

ABCA4 variant phasing and complete haplo-genotype analysis for singletons using Cas9 targeted ultra-long read nanopore sequencing

Gavin Arno; Benjamin McClinton; Neringa Jurkute; Fabiana Louise Motta; Manir Ali; Christopher M Watson; Chris Inglehearn; Carmel Toomes; Michel Michaelides; Omar Abdul Rahman Mahroo; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4533.

ARVO Annual Meeting Abstract June 2023

Genotypic and phenotypic findings in GUCA1A -associated retinopathy

Gilad Allon; Gavin Arno; Anthony G Robson; Magella M Neveu; Michel Michaelides; Andrew R Webster; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4526.

ARVO Annual Meeting Abstract June 2023

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

Imran H Yusuf; Richard Caswell; Parveen Sen; Maria Vadala; Patrik Schatz; Said El Shamieh; Srilekha Sundaramurthy; Sinje Geuer; Isabelle Meunier; Christina Zeitz; Isabelle S Audo; Inmaculada Martin-Merida; Carmen Ayuso; Ajoy Vincent; Andrew R Webster; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5441.

ARVO Annual Meeting Abstract June 2023

RP2- associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers

Michalis Georgiou; Anthony G Robson; Sami H Uwaydat; NIKOLAS PONTIKOS; Omar Abdul Rahman Mahroo; Michael E Cheetham; Andrew R Webster; Alison J Hardcastle; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4638.

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. https://doi.org/10.1167/tvst.11.9.34

Includes: Supplemental Content

Genetics August 2022

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1 , Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

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Maria Pilar Martin-Gutierrez; Elena R. Schiff; Genevieve Wright; Naushin Waseem; Omar A. Mahroo; Michel Michaelides; Anthony T. Moore; Andrew R. Webster; Gavin Arno; for the Genomics England Research Consortium
TAGS: alleles, genetic inheritance, progressive cone-rod dystrophy, retinitis pigmentosa, family, macular dystrophy, datasets
Invest. Ophthalmol. Vis. Sci.. 2022; 63(9):14. https://doi.org/10.1167/iovs.63.9.14

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. https://doi.org/10.1167/iovs.63.6.15

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.

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.

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.

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.

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.

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PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease

An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank

Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX -associated retinopathy

Residual Neuropathy Target Esterase activity predicts retinopathy among PNPLA6 disorders

Comparison of central foveal signal intensity obtained in two autofluorescence modalities in CNGB3 -associated achromatopsia

A systematic approach to characterize the contribution of 5’UTR variation to inherited retinal disease

Electrophysiological and clinical assessment of patients with pathogenic biallelic NSUN3 variants.

IMPG2 -related maculopathy

ABCA4 variant phasing and complete haplo-genotype analysis for singletons using Cas9 targeted ultra-long read nanopore sequencing

Genotypic and phenotypic findings in GUCA1A -associated retinopathy

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

RP2- associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers

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

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1 , Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

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

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