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Meeting Abstract (4)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (5)
Translational Vision Science & Technology (1)

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ARVO Annual Meeting Abstract (4)
Retina (2)

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Eye Anatomy and Disorders (2)
Genetics (2)
Retina (2)
Imaging (1)
Retinal Imaging (1)
Translational Research (1)
Visual Neuroscience (1)

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abca4 gene (2)
cohort studies (1)
electroretinography (1)
machine learning (1)
macular dystrophy (1)
phenotype (1)
phenotype determination (1)
retinal diseases (1)
sex distribution (1)

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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

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

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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

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.

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.

ARVO Annual Meeting Abstract June 2021

Mutational profile of the most common genes causing inherited retinal diseases in a large molecularly characterized cohort from the United Kingdom

Sandra Vermeirsch; Nikolas Pontikos; Samantha Malka; Michel Michaelides; Andrew Webster; Omar Abdul Rahman Mahroo; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1521.

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Online ISSN: 2164-2591

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2025 Association for Research in Vision and Ophthalmology.

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