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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. doi: https://doi.org/10.1167/iovs.63.6.15

ARVO Annual Meeting Abstract June 2022

Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using AI

NIKOLAS PONTIKOS; William Woof; Peter Krawitz; Gavin Arno; Kristina Hess; Malena Daich Varela; Bart Liefers; Thales Guimaraes; Mital Shah; Savita Madhusudhan; Susan M. Downes; Konstantinos Balaskas; Omar Abdul Rahman Mahroo; Frank G Holz; Michel Michaelides; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1161. doi:

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. doi:

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. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract June 2022

Cas9 targeted long-read nanopore sequencing of ABCA4 and the OPN1LW/OPN1MW gene array for investigation of inherited retinal disease

Gavin Arno; Neringa Jurkute; T. Christian Boles; Michel Michaelides; Omar Abdul Rahman Mahroo; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):516 – A0093. doi:

ARVO Annual Meeting Abstract June 2022

Functional investigation of candidate mis-splicing variants in retinal dystrophy genes using nanopore sequencing from patient blood samples

Neringa Jurkute; Jim Bellingham; Luca Varga; Michel Michaelides; Omar Abdul Rahman Mahroo; Susanne Roosing; Andrew R Webster; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):515 – A0092. doi:

ARVO Annual Meeting Abstract June 2022

Upstream variants causing reduced transcription and unusual presentation of recessive inherited retinal dystrophies

Jim Bellingham; Andrew R Webster; Fabiana Motta; Neringa Jurkute; Eva Lenassi; Graeme C Black; Jamie Ellingford; Omar Abdul Rahman Mahroo; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):514 – A0091. doi:

ARVO Annual Meeting Abstract June 2022

Clinical and histopathologic characteristics of autosomal dominant cone-rod dystrophy caused by mutations in the CRX gene

Isa van der Veen; Leo Hahn; Michalis Georgiou; Mary J. van Schooneveld; Jacoline B ten Brink; Ralph J. Florijn; Annette Ossewaarde-van Norel; Omar Abdul Rahman Mahroo; Emanuel de Carvalho; Arthur A. Bergen; Michel Michaelides; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1785 – F0334. doi:

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. doi:

ARVO Annual Meeting Abstract June 2022

Association between statin use and retinal layer thicknesses in the UK Biobank

Christopher J Hammond; Mark Simcoe; Zakariya Jarrar; Gavin Arno; Pirro G Hysi; Andrew R Webster; Omar Abdul Rahman Mahroo; Praveen Patel

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2544 – A0113. doi:

ARVO Annual Meeting Abstract June 2022

S-cone electroretinograms recorded with a portable device in a series of patients with bi-allelic pathogenic variants in NR2E3

Talha Soorma; Clara Valor-Suarez; Xiaofan Jiang; Isabelle Chow; Shaun Leo; Chan Ning Lee; Gavin Arno; Christopher J Hammond; Andrew R Webster; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3791 – F0212. doi:

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. doi:

ARVO Annual Meeting Abstract June 2022

Monthly certifications of vision impairment in England and Wales in 2020 and 2021 compared with pre-pandemic years

Omar Abdul Rahman Mahroo; Wen Xing; Snezana Lazarevic; Antra Zekite; Declan Flanagan

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4237 – A0165. doi:

Articles May 2022

Electrophysiological Assessment in Birdshot Chorioretinopathy: Flicker Electroretinograms Recorded With a Handheld Device

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Anna M. Waldie; Angharad E. Hobby; Isabelle Chow; Elisa E. Cornish; Mathura Indusegaran; Aleksandra Pekacka; Phuc Nguyen; Clare Fraser; Alison M. Binns; Miles R. Stanford; Christopher J. Hammond; Peter J. McCluskey; John R. Grigg; Omar A. Mahroo
TAGS: electroretinography, mobile devices, photopsia, vitiliginous chorioretinitis, electrophysiology
Trans. Vis. Sci. Tech.. 2022; 11(5):23. doi: https://doi.org/10.1167/tvst.11.5.23

ARVO Annual Meeting Abstract June 2021

Photopic negative response in idiopathic intracranial hypertension recorded using a handheld device

Antony Raharja; Shaun Leo; Isabelle Chow; Mathura Indusegaran; Christopher J Hammond; Omar A Mahroo; Sui H Wong

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):609. doi:

ARVO Annual Meeting Abstract June 2021

Evaluating the diagnostic yield of whole genome sequencing in genetic eye disease

Samantha Malka; Elena Schiff; Hannah Knight; Genevieve Wright; Ainoa Cordoba Gimenez; Michel Michaelides; Patrick Yu-Wai-Man; Omar Abdul Rahman Mahroo; Gavin Arno; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1556. doi:

ARVO Annual Meeting Abstract June 2021

The rise-time of the rod-driven electroretinogram a-wave measured in over 200 twins: association with age and estimation of heritability

Xiaofan Jiang; Taha Bhatti; Ambreen Tariq; Ting Shen; Katie Williams; Pirro G Hysi; Christopher J Hammond; Andrew Webster; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):617. doi:

ARVO Annual Meeting Abstract June 2021

The Heritability of Different Photopic Negative Response Components Explored in a Twin Study

Shaun Leo; Xiaofan Jiang; Taha Bhatti; Ambreen Tariq; Ting Shen; Katie Williams; Anthony G Robson; Pirro G Hysi; Christopher J Hammond; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):613. doi:

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Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using AI

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

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

Cas9 targeted long-read nanopore sequencing of ABCA4 and the OPN1LW/OPN1MW gene array for investigation of inherited retinal disease

Functional investigation of candidate mis-splicing variants in retinal dystrophy genes using nanopore sequencing from patient blood samples

Upstream variants causing reduced transcription and unusual presentation of recessive inherited retinal dystrophies

Clinical and histopathologic characteristics of autosomal dominant cone-rod dystrophy caused by mutations in the CRX gene

Exploring the p.Gly863Ala variant in ABCA4: the complex allele with p.Asn1868Ile is enriched in ABCA4-retinopathy patients compared to the general population

Association between statin use and retinal layer thicknesses in the UK Biobank

S-cone electroretinograms recorded with a portable device in a series of patients with bi-allelic pathogenic variants in NR2E3

ABCA4 -alleles bearing two rare cis-variants comprise a significant proportion of those found in affected patients.

Monthly certifications of vision impairment in England and Wales in 2020 and 2021 compared with pre-pandemic years

Electrophysiological Assessment in Birdshot Chorioretinopathy: Flicker Electroretinograms Recorded With a Handheld Device

Photopic negative response in idiopathic intracranial hypertension recorded using a handheld device

Evaluating the diagnostic yield of whole genome sequencing in genetic eye disease

The rise-time of the rod-driven electroretinogram a-wave measured in over 200 twins: association with age and estimation of heritability

The Heritability of Different Photopic Negative Response Components Explored in a Twin Study

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