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Visual Neuroscience November 2024

The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism

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Zihe Xu; Jit Kai Tan; Krishnika Vetrivel; Xiaofan Jiang; Shaun M. Leo; Taha Bhatti; Ambreen Tariq; Andrew R. Webster; Anthony G. Robson; Christopher J. Hammond; Pirro G. Hysi; Omar A. Mahroo
TAGS: electroretinography, genetic risk, myopia, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2024; 65(13):21. https://doi.org/10.1167/iovs.65.13.21

Includes: Supplemental Content

Retina July 2024

CDH23 -Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History

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Thales A. C. de Guimaraes; Anthony G. Robson; Isabela M. C. de Guimaraes; Yannik Laich; Nancy Aychoua; Genevieve Wright; Angelos Kalitzeos; Omar A. Mahroo; Andrew R. Webster; Michel Michaelides
TAGS: natural history, retinal imaging, signs and symptoms, usher syndrome, eye
Invest. Ophthalmol. Vis. Sci.. 2024; 65(8):27. https://doi.org/10.1167/iovs.65.8.27

Retina June 2024

A Long-Term Retrospective Natural History Study of EFEMP1 -Associated Autosomal Dominant Drusen

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Thales A. C. de Guimarães; Angelos Kalitzeos; Omar A. Mahroo; Jacqueline van der Spuy; Andrew R. Webster; Michel Michaelides
TAGS: choroidal neovascularization, drusen, natural history, retinal diseases, retinal imaging, retrospective studies, eye, signs and symptoms, follow-up
Invest. Ophthalmol. Vis. Sci.. 2024; 65(6):31. https://doi.org/10.1167/iovs.65.6.31

ARVO Annual Meeting Abstract June 2024

Assessment of the splicing-effect, in vivo, of mutations in USH2A using long-read sequencing of cDNA from nasal epithelium

Gavin Arno; Shwetha Chandrasekhar; Siying Lin; Samantha Malka; Elena Schiff; Neringa Jurkute; Michel Michaelides; Omar Abdul Rahman Mahroo; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4685.

ARVO Annual Meeting Abstract June 2024

CDH23 -Associated Usher Syndrome: Clinical Features, Retinal Imaging and Natural History

Thales A C De Guimarães; Genevieve Wright; Isabela Maria Cabral de Guimaraes; Angelos Kalitzeos; Omar Abdul Rahman Mahroo; Andrew R Webster; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3089.

ARVO Annual Meeting Abstract June 2024

Biallelic mutations in COQ8B ( ADCK4 ) lead to non-syndromic retinitis pigmentosa in multiple families

Ana Belen Iglesias Romero; Karolina Kaminska; Cristina Santos; Siying Lin; Mathieu Quinodoz; Marc Folcher; Joaquim Tomaz Calado; Gavin Arno; Andrew R Webster; Ana Berta Sousa; Luisa C. Santos; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1523.

ARVO Annual Meeting Abstract June 2024

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Anne Marie Berry; Pooja Biswas; Gavin Arno; Mathieu Quinodoz; Riccardo Sangermano; Jiao Xiaodong; Mukhtar Ullah; Alison J Hardcastle; Kelly A Frazer; James Fielding Hejtmancik; Matteo D'Antonio; S. Amer Riazuddin; Carlo Rivolta; Kinga Maria Bujakowska; Andrew R Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5287.

Retina May 2024

Sex Distributions in Non- ABCA4 Autosomal Macular Dystrophies

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Amit V. Mishra; Sandra Vermeirsch; Siying Lin; Maria P. Martin-Gutierrez; Mark Simcoe; Nikolas Pontikos; Elena Schiff; Thales A. C. de Guimarães; Pirro G. Hysi; Michel Michaelides; Gavin Arno; Andrew R. Webster; Omar A. Mahroo
TAGS: abca4 gene, cohort studies, macular dystrophy, sex distribution
Invest. Ophthalmol. Vis. Sci.. 2024; 65(5):9. https://doi.org/10.1167/iovs.65.5.9

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

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

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The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism

CDH23 -Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History

A Long-Term Retrospective Natural History Study of EFEMP1 -Associated Autosomal Dominant Drusen

Assessment of the splicing-effect, in vivo, of mutations in USH2A using long-read sequencing of cDNA from nasal epithelium

CDH23 -Associated Usher Syndrome: Clinical Features, Retinal Imaging and Natural History

Biallelic mutations in COQ8B ( ADCK4 ) lead to non-syndromic retinitis pigmentosa in multiple families

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Sex Distributions in Non- ABCA4 Autosomal Macular Dystrophies

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

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

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