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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 February 2024

Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability

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Zakariya A. Jarrar; Khaldoon O. Al-Nosairy; Xiaofan Jiang; Ali Lamin; Dominic Wong; Abdus S. Ansari; Katie M. Williams; Sobha Sivaprasad; Michael B. Hoffmann; Pirro G. Hysi; Christopher J. Hammond; Omar A. Mahroo
TAGS: adult, cohort studies, ganglia, nose, twins
Invest. Ophthalmol. Vis. Sci.. 2024; 65(2):26. https://doi.org/10.1167/iovs.65.2.26

Clinical and Epidemiologic Research July 2023

Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study

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Zakariya A. Jarrar; Abdus Samad Ansari; Katie M. Williams; Dominic S. Wong; Pirro G. Hysi; Omar A. Mahroo; Christopher J. Hammond
TAGS: prevalence, spectral domain-optical coherence tomography, twin studies
Invest. Ophthalmol. Vis. Sci.. 2023; 64(10):9. https://doi.org/10.1167/iovs.64.10.9

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

Prevalence, concordance, and heritability of posterior vitreous detachment (PVD) in a twin population

Dominic Shou Huang Wong; Zakariya Jarrar; Abdus Samad Ansari; Katie Williams; Pirro G Hysi; Omar Abdul Rahman Mahroo; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):540.

ARVO Annual Meeting Abstract June 2023

A genome wide association study of electroretinogram oscillatory potentials

ZIHE XU; Xiaofan Jiang; Alex M Tanner; Talha Soorma; Christopher J Hammond; Omar Abdul Rahman Mahroo; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1663.

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

Ratio of temporal to nasal macular ganglion cell layer thicknesses in a twin study: correlations with age and within monozygotic and dizygotic twin pairs

Khaldoon O. Al-Nosairy; Zakariya Jarrar; Ali Lamin; Katie Williams; Sobha Sivaprasad; Michael B Hoffmann; Pirro G Hysi; Christopher J Hammond; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3433.

ARVO Annual Meeting Abstract June 2023

Retinal Nerve Fibre Layer thickness is associated with specific aspects of cognition

Miryam Schattner; Omar Abdul Rahman Mahroo; Praveen J Patel; Christopher J Hammond; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4197.

ARVO Annual Meeting Abstract June 2023

Certification of vision impairment relating to uveitis as main cause in England and Wales between 2009 and 2021

Amit Mishra; Antra Zekite; Wen Xing; Noriko Cable; Snezana Lazarevic; Roxanne Crosby-Nwaobi; Omar Abdul Rahman Mahroo; Declan Flanagan

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4840.

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

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

Machine learning identification of microbiota associated with age-related macular degeneration

Zakariya Jarrar; Adewale Adebayo; Omar Abdul Rahman Mahroo; Pirro G Hysi; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):345 – F0176.

ARVO Annual Meeting Abstract June 2022

Association between a myopia-susceptibility locus within CNGB3 and retinal electrophysiological responses

ZIHE XU; Xiaofan Jiang; Christopher J Hammond; Omar Abdul Rahman Mahroo; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):767 – F0419.

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.

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

Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability

Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study

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

Prevalence, concordance, and heritability of posterior vitreous detachment (PVD) in a twin population

A genome wide association study of electroretinogram oscillatory potentials

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

Ratio of temporal to nasal macular ganglion cell layer thicknesses in a twin study: correlations with age and within monozygotic and dizygotic twin pairs

Retinal Nerve Fibre Layer thickness is associated with specific aspects of cognition

Certification of vision impairment relating to uveitis as main cause in England and Wales between 2009 and 2021

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

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

Machine learning identification of microbiota associated with age-related macular degeneration

Association between a myopia-susceptibility locus within CNGB3 and retinal electrophysiological responses

Flicker electroretinogram peak times in over 1600 adult twins: distribution of times, associations with age and heritability

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