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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

ARVO Annual Meeting Abstract June 2022

A gene-centric nomenclature and classification system for inherited retinal disorders

Robert B. Hufnagel; Jennifer Goldstein; William Hankey; Panagiotis I Sergouniotis; Kristy Lee; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):621 – A0336. 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

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

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:

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

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

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Alfredo Dueñas Rey; Muhammad Imran Khan; Mubeen Khan; Miriam Bauwens; Toon Rosseel; Dror Sharon; Robert K Koenekoop; Gavin Arno; Andrew Webster; Carmel Toomes; Claire-Marie Dhaenens; Frans P.M. Cremers; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1451. doi:

ARVO Annual Meeting Abstract June 2021

The clinical features and variability of retinopathy consequent upon homozygous mutation of LAMA1 in three affected siblings

Elena Schiff; Nancy Aychoua; Savita Nutan; Gavin Arno; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1569. doi:

ARVO Annual Meeting Abstract June 2021

A founder allele deleting CRX causes late-onset macular disease by haploinsufficiency

samar Yahya; Claire Smith; James Poulter; Martin McKibbin; Gavin Arno; Jamie Ellingford; Andrew Webster; Graeme Black; Manir Ali; Carmel Toomes; Chris Inglehearn

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1536. doi:

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. doi:

ARVO Annual Meeting Abstract June 2021

Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone-Rod Dystrophy and Hearing Loss

Giulia Ascari; Nanna D. Rendtorff; Marieke De Bruyne; Julie De Zaeytijd; Michel Van Lint; Mattias Van Heetvelde; Alfredo Dueñas Rey; Gavin Arno; Julie Jacob; David Creytens; Jo Van Dorpe; Björn Menten; Mojca Strazisar; Mette Bertelsen; Lisbeth Tranebjærg; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1520. doi:

ARVO Annual Meeting Abstract June 2021

Investigating the genotype-phenotype relationships of patient specific PNPLA6 mutations

James Liu; Cara Lwin; Yi He; Gavin Arno; Anthony T Moore; Andrew Webster; Laryssa A Huryn; Bin Guan; Robert B Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1519. doi:

ARVO Annual Meeting Abstract June 2021

Exploration of associations between a prevalent Stargardt disease-associated variant in ABCA4 and retinal thickness in the general population

Pirro G Hysi; Mark James Simcoe; Gavin Arno; Tony Ko; Paveen J Patel; Omar Abdul Rahman Mahroo; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2202. doi:

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Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1 , Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

A gene-centric nomenclature and classification system for inherited retinal disorders

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

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.

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

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

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

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

The clinical features and variability of retinopathy consequent upon homozygous mutation of LAMA1 in three affected siblings

A founder allele deleting CRX causes late-onset macular disease by haploinsufficiency

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

Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone-Rod Dystrophy and Hearing Loss

Investigating the genotype-phenotype relationships of patient specific PNPLA6 mutations

Exploration of associations between a prevalent Stargardt disease-associated variant in ABCA4 and retinal thickness in the general population

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