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Retina February 2025

Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A -Associated Retinopathy

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Gilad Allon; Siying Lin; Anthony G. Robson; Gavin Arno; Magella M. Neveu; Pirro G. Hysi; Michel Michaelides; Andrew R. Webster; Omar A. Mahroo
TAGS: cohort studies, diagnostic imaging, genetics, retinal diseases, visual acuity, electrophysiology, family, eye, vision
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):50. https://doi.org/10.1167/iovs.66.2.50

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

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Imran H Yusuf; Richard Caswell; Stephen H Tsang; Carmen Ayuso; Dror Sharon; Juliana M F Sallum; Carel C B Hoyng; Petra Liskova; Ajoy Vincent; Madhavan Jagadeesan; Bart Peter Leroy; Jose Millán; Smaragda Kamakari; Andrew Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2132.

ARVO Annual Meeting Abstract June 2024

IQCB1 -retinopathy:Clinical and Genetic Characterization, Natural History, and Novel observations

Sagnik Sen; Lorenzo Fabozzi; Kaoru Fujinami; Yu Fujinami-Yokokawa; Genevieve Wright; Andrew Webster; Omar Abdul Rahman Mahroo; Anthony G Robson; Michalis Georgiou; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4660.

ARVO Annual Meeting Abstract June 2024

Non-syndromic retinal dystrophy associated with biallelic mutation of SUMF1 and reduced leukocyte sulphatase activity

Siying Lin; Anthony G Robson; Dorothy A Thompson; Derek Burke; Robin Lachmann; Emma Footitt; Karolina M Stepien; Elena Schiff; Michel Michaelides; Omar Abdul Rahman Mahroo; Gavin Arno; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1521.

ARVO Annual Meeting Abstract June 2024

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Samantha Malka; Siying Lin; Elena Schiff; Genevieve Wright; Michel Michaelides; Omar Abdul Rahman Mahroo; Jessica Gardner; Alison J Hardcastle; Anne Marie Berry; Riccardo Sangermano; Carlo Rivolta; Mathieu Quinodoz; Kinga Maria Bujakowska; Radha Ayyagari; Gavin Arno; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4663.

ARVO Annual Meeting Abstract June 2024

Strategies for Evidence-based Variant Curation for LCA and Early Onset Retinal Dystrophy

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

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4655.

ARVO Annual Meeting Abstract June 2024

Modelling the rod-driven electroretinogram a-wave elicited by strong flashes: insights from patients with selected post-phototransduction impairments

Omar Abdul Rahman Mahroo; Xiaofan Jiang; Shaun Leo; Pirro G Hysi; Thales A C De Guimarães; Anthony G Robson; Christopher J Hammond; Michel Michaelides; Andrew Webster; John Robson

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5854.

ARVO Annual Meeting Abstract June 2024

PRPH2 Gene Mutations and Associated Phenotypes in IRD patients with diverse genetic background.

Christopher Hallock; Riccardo Sangermano; Elfride De Baere; Siying Lin; Jennifer Thompson; Pascal Escher; Andrea L Vincent; Kaylie D Webb-Jones; Monika Grudzinska Pechhacker; Jacque L Duncan; Samer Khateb; Tamar Ben-Yosef; David G Birch; Andrew Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5297.

ARVO Annual Meeting Abstract June 2024

Importance of phenotype in guiding re-interrogation of genetic results to achieve the correct molecular diagnosis in retinal disease

Mohammad Anas; Elena Schiff; Neringa Jurkute; Jonathan Virgo; Gavin Arno; Anthony G Robson; Michel Michaelides; Andrew Webster; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5289.

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

PDF

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

PDF

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.

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Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A -Associated Retinopathy

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

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

IQCB1 -retinopathy:Clinical and Genetic Characterization, Natural History, and Novel observations

Non-syndromic retinal dystrophy associated with biallelic mutation of SUMF1 and reduced leukocyte sulphatase activity

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Strategies for Evidence-based Variant Curation for LCA and Early Onset Retinal Dystrophy

Modelling the rod-driven electroretinogram a-wave elicited by strong flashes: insights from patients with selected post-phototransduction impairments

PRPH2 Gene Mutations and Associated Phenotypes in IRD patients with diverse genetic background.

Importance of phenotype in guiding re-interrogation of genetic results to achieve the correct molecular diagnosis in retinal disease

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

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

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