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

ARVO Annual Meeting Abstract June 2022

Structural and functional assessment of photoreceptors in healthy individuals

Megan Hannah Vaughan; Nicole Tay; Thomas Kane; Angelos Kalitzeos; Navjit Singh; Adrian Zheng; Marisa Rodriguez Carmona; John L Barbur; Michel Michaelides; Emily J Patterson

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):398 – F0436. doi:

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

Worldwide multicenter ocular imaging study (EyeConic) to identify patients eligible for cone-based optogenetics therapy

Lucas Janeschitz-Kriegl; Giacomo Calzetti; Michel Michaelides; Jose Alain Sahel; Zoltán Nagy; Katarina Stingl; Jin Zi-Bing; Jacque L Duncan; Eyal Banin; Byron L Lam; Michalis Georgiou; Boris Rosin; Viktória Szabo; Potyra Rosa; Bence György; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):455. 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

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

AAV5 -RPGR (botaretigene sparoparvovec) gene therapy for X-linked retinitis pigmentosa (XLRP) demonstrates localized improvements in static perimetry

Michel Michaelides; Jialin Xu; Dai Wang; Peggy Wong; Albert Fung; Alexandra Forbes; Stuart Naylor; Robert Zeldin; Maria A Parker; Richard Weleber; Thales Antonio Cabral de Guimaraes; Cagri Besirli; Yesa Yang; James Bainbridge

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3846. 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

Efficacy and safety of sepofarsen, an intravitreal RNA antisense oligonucleotide, for the treatment of CEP290 -associated Leber congenital amaurosis (LCA10): a randomized, double-masked, sham-controlled, Phase 3 study (ILLUMINATE)

Bart Peter Leroy; Katarina Stingl; Isabelle S Audo; Camiel J F Boon; Fernanda Belga O Porto; Michel Michaelides; Helene Dollfus; L. Ingeborgh van den Born; Lyubomyr M Lytvynchuk; Francesca Simonelli; Juliana M F Sallum; Robert K Koenekoop; Elise Heon; Stephen R Russell; Michael Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4536 – F0323. doi:

ARVO Annual Meeting Abstract June 2022

AAV- RPGR Gene Therapy for RPGR -Associated X-Linked Retinitis Pigmentosa (XLRP): Human retinal organoid vector efficacy data

Paul Sladen; Arifa Naeem; Toyin Adefila-Ideozu; Tijmen Vermeule; Sophie Busson; Michel Michaelides; Stuart Naylor; Amelia Lane; Tassos Georgiadis

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4503 – F0290. doi:

ARVO Annual Meeting Abstract June 2022

Visual acuity and full-field stimulus thresholds (FST) over 2 years in the RUSH2A study: annual rates of change from mixed effects modeling

Peiyao Cheng; David G Birch; Jacque L Duncan; Frederick L Ferris; Maureen G Maguire; Allison R. Ayala; Janet K Cheetham; Todd Durham; Abigail T Fahim; Rachel M Huckfeldt; Michel Michaelides; Mark E Pennesi; Jose Alain Sahel; Katarina Stingl; Ajoy Vincent; Christina Y Weng

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4480 – F0267. doi:

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

Vision Sciences Society Annual Meeting Abstract September 2021

A demonstration of cone function plasticity after gene therapy in achromatopsia

Mahtab Farahbakhsh; Elaine J. Anderson; Andy Rider; John A. Greenwood; Nashila Hirji; Serena Zaman; Pete R. Jones; D. Samuel Schwarzkopf; Geraint Rees; Michel Michaelides; Tessa M. Dekker

Journal of Vision. 2021; 21(9):2444. doi: https://doi.org/10.1167/jov.21.9.2444

ARVO Annual Meeting Abstract June 2021

Machine Learning for Classification of Functional Phenotypes in Stargardt Disease from Full-Field Electroretinography

Sophie Lorraine Glinton; Antonio Calcagni; Gongyu Zhang; Nikolas Pontikos; Watjana Lilaonitkul; Salil Patel; Siegfried Wagner; Michel Michaelides; Pearse Keane; Andrew Webster; Anthony G Robson; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2123. doi:

ARVO Annual Meeting Abstract June 2021

Quantification of color vision impairment in RPGR -associated Retinitis Pigmentosa

Yesa Yang; Caterina Ripamonti; Neruban Kumaran; Angelos Kalitzeos; Navjit Singh; James Tee; James W B Bainbridge; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2805. doi:

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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

Structural and functional assessment of photoreceptors in healthy individuals

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

Worldwide multicenter ocular imaging study (EyeConic) to identify patients eligible for cone-based optogenetics therapy

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

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

AAV5 -RPGR (botaretigene sparoparvovec) gene therapy for X-linked retinitis pigmentosa (XLRP) demonstrates localized improvements in static perimetry

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

Efficacy and safety of sepofarsen, an intravitreal RNA antisense oligonucleotide, for the treatment of CEP290 -associated Leber congenital amaurosis (LCA10): a randomized, double-masked, sham-controlled, Phase 3 study (ILLUMINATE)

AAV- RPGR Gene Therapy for RPGR -Associated X-Linked Retinitis Pigmentosa (XLRP): Human retinal organoid vector efficacy data

Visual acuity and full-field stimulus thresholds (FST) over 2 years in the RUSH2A study: annual rates of change from mixed effects modeling

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

A demonstration of cone function plasticity after gene therapy in achromatopsia

Machine Learning for Classification of Functional Phenotypes in Stargardt Disease from Full-Field Electroretinography

Quantification of color vision impairment in RPGR -associated Retinitis Pigmentosa

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