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Genetics April 2025

Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A -Associated Usher Syndrome

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Juan C. Romo-Aguas; Thales A. C. de Guimarães; Angelos Kalitzeos; Nancy Aychoua; Chrysanthi Tsika; Anthony G. Robson; Yu Fujinami-Yokokawa; Kaoru Fujinami; Omar A. Mahroo; Andrew R. Webster; Michel Michaelides
TAGS: eye, follow-up, genetics, natural history, usher syndrome, cohort studies, phenotype, retinal imaging, diagnostic imaging
Invest. Ophthalmol. Vis. Sci.. 2025; 66(4):60. https://doi.org/10.1167/iovs.66.4.60

Includes: Supplemental Content

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

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

Full-field electroretinography reference limits from 420 healthy subjects, derived from transference and validation of reference data between electrode types and centers

Rebecca Baker; Shaun Leo; William Clowes; Anne Georgiou; Isabelle Chow; Xiaofan Jiang; Omar Abdul Rahman Mahroo; Antonio Calcagni; Magella Neveu; Anthony G Robson

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5869.

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

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.

Genetics January 2024

Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4

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Yu Fujinami-Yokokawa; Kwangsic Joo; Xiao Liu; Kazushige Tsunoda; Mineo Kondo; Seong Joon Ahn; Anthony G. Robson; Izumi Naka; Jun Ohashi; Hui Li; Lizhu Yang; Gavin Arno; Nikolas Pontikos; Kyu Hyung Park; Michel Michaelides; Hisateru Tachimori; Hiroaki Miyata; Ruifang Sui; Se Joon Woo; Kaoru Fujinami; for the East Asia Inherited Retinal Disease Society Study Group*
TAGS: east asian people, genotype, macular dystrophy, spectral domain-optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2024; 65(1):41. https://doi.org/10.1167/iovs.65.1.41

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

The effects of short duration, low level photobiomodulation on human cone function, assessed using two tests of color vision

Rebecca A Baker; Magella M Neveu; Anthony G Robson; Glen Jeffery

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3696.

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

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

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

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

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.

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. https://doi.org/10.1167/iovs.62.15.12

ARVO Annual Meeting Abstract June 2021

A Comparison of Xenon- and LED-based Full-field Electroretinography in Patients with ABCA4-related Macular Dystrophy

Antonio Calcagni; Sophie L Glinton; Pearse A Keane; Michel Michaelides; Andrew Webster; Omar Abdul Rahman Mahroo; Anthony G Robson

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):604.

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Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A -Associated Usher Syndrome

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

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

Full-field electroretinography reference limits from 420 healthy subjects, derived from transference and validation of reference data between electrode types and centers

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

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

Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4

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

The effects of short duration, low level photobiomodulation on human cone function, assessed using two tests of color vision

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

Genotypic and phenotypic findings in GUCA1A -associated retinopathy

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

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

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

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

A Comparison of Xenon- and LED-based Full-field Electroretinography in Patients with ABCA4-related Macular Dystrophy

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