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ARVO Annual Meeting Abstract June 2023

Residual Neuropathy Target Esterase activity predicts retinopathy among PNPLA6 disorders

James Liu; Yi He; Chisom Madu; Lijin Dong; Marina Han; Cara Lwin; Gavin Arno; Anthony Moore; Andrew R Webster; Michel Michaelides; Laryssa Huryn; Bin Guan; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):578.

Special Issue May 2023

IMI—Management and Investigation of High Myopia in Infants and Young Children

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Ian Flitcroft; John Ainsworth; Audrey Chia; Susan Cotter; Elise Harb; Zi-Bing Jin; Caroline C. W. Klaver; Anthony T. Moore; Ken K. Nischal; Kyoko Ohno-Matsui; Evelyn A. Paysse; Michael X. Repka; Irina Y. Smirnova; Martin Snead; Virginie J. M. Verhoeven; Pavan K. Verkicharla
TAGS: child, myopia
Invest. Ophthalmol. Vis. Sci.. 2023; 64(6):3. https://doi.org/10.1167/iovs.64.6.3

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

ARVO Annual Meeting Abstract June 2022

Using human LCA7 retinal organoids to establish allele-specific editing as a therapy

Kathleen R Chirco; Shereen Chew; Anthony T Moore; Jacque L Duncan; Renee Christine Ryals; Martha Neuringer; Deepak A Lamba

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):81 – A0054.

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

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.

ARVO Annual Meeting Abstract June 2021

Establishing an in vitro human Leber congenital amaurosis model system

Kathleen R Chirco; Shereen Chew; Jacque L Duncan; Anthony T Moore; Deepak A Lamba

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1693.

Genetics May 2021

Expanding the FDXR -Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

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Neringa Jurkute; Priya D. Shanmugarajah; Marios Hadjivassiliou; Jenny Higgs; Miodrag Vojcic; Iain Horrocks; Yann Nadjar; Valerie Touitou; Guy Lenaers; Roy Poh; James Acheson; Anthony G. Robson; F. Lucy Raymond; Mary M. Reilly; Patrick Yu-Wai-Man; Anthony T. Moore; Andrew R. Webster; Gavin Arno; for the Genomics England Research Consortium
TAGS: family, optic atrophy, phenotype, recurrence, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2021; 62(6):2. https://doi.org/10.1167/iovs.62.6.2

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Surgical Treatment of Children with Cyclic Esotropia

Lauren Hennein; Anthony Moore

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):517.

ARVO Annual Meeting Abstract June 2020

Multi-Exon Deletion Alleles of ATF6 Linked to Achromatopsia

Kyle Kim; Eun-Jin Lee; Wei-Chieh Chiang; Heike Kroeger; Chloe Xiaoke Bi; Daniel L Chao; Rebecca Mastey; Stephen Tsang; Leon Chea; Britta Baumann; Isabelle S Audo; Susanne Kohl; Anthony Moore; Luke Wiseman; Joseph Carroll; Jonathan H Lin

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2393.

ARVO Annual Meeting Abstract June 2020

Creating an in vitro Leber congenital amaurosis model to investigate disease mechanisms

Kathleen R Chirco; Shereen Chew; Jacque L Duncan; Anthony Moore; Deepak A Lamba

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3803.

Articles May 2020

Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration

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Kamron N. Khan; Shyamanga Borooah; Leonardo Lando; Kunny Dans; Omar A. Mahroo; Amit Meshi; Angelos Kalitzeos; Georgios Agorogiannis; Sasan Moghimi; William R. Freeman; Andrew R. Webster; Anthony T. Moore; Martin McKibbin; Michel Michaelides
TAGS: bruch's basal membrane, macular degeneration, optical coherence tomography, retinal pigment epithelium, spectral domain-optical coherence tomography, eye, drusen
Trans. Vis. Sci. Tech.. 2020; 9(6):26. https://doi.org/10.1167/tvst.9.6.26

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Pathogenic structural and non-coding variants in retinal dystrophy identified through the 100,000 genomes project

Gavin Arno; Jamie Ellingford; Fabiana Louise Motta; Kathryn Oprych; Rola Ba-Abbad; Omar Abdul Rahman Mahroo; Anthony Moore; Graeme Black; Michel Michaelides; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1755.

ARVO Annual Meeting Abstract July 2019

Factor H-Related Protein 4 (FHR-4) drives complement dysregulation in age-related macular degeneration

Valentina Cipriani; Laura Lorés de Motta; Fan He; Dina Fathalla; Selina McHarg; Nadhim Bayatti; Ilhan Erkin Acar; Carel C B Hoyng; Sascha Fauser; Anthony Moore; John RW Yates; Paul Morgan; Eiko de Jong; Anneke I Den Hollander; Paul N Bishop; Simon J Clark

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3870.

ARVO Annual Meeting Abstract July 2019

Genetic basis of inherited retinal disease in a UK cohort of over 2900 families

Omar Abdul Rahman Mahroo; NIKOLAS PONTIKOS; Gavin Arno; Rola Ba-Abbad; Samantha Malka; Genevieve Wright; Monica Armengol; Menachem Katz; Anthony Moore; Michel Michaelides; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):401.

Retina June 2019

Characterization of Retinal Structure in ATF6 -Associated Achromatopsia

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Rebecca R. Mastey; Michalis Georgiou; Christopher S. Langlo; Angelos Kalitzeos; Emily J. Patterson; Thomas Kane; Navjit Singh; Ajoy Vincent; Anthony T. Moore; Stephen H. Tsang; Jonathan H. Lin; Marielle P. Young; M. Elizabeth Hartnett; Elise Héon; Susanne Kohl; Michel Michaelides; Joseph Carroll
TAGS: achromatopsia, diagnostic imaging, mosaicism, retina, retinal cone, rod photoreceptors, parafoveal region, photoreceptors, genetics, fovea centralis
Invest. Ophthalmol. Vis. Sci.. 2019; 60(7):2631-2640. https://doi.org/10.1167/iovs.19-27047

ARVO Annual Meeting Abstract July 2018

Whole genome analysis of inherited retinal disease patients reveals mutations intractable to other detection strategies

Gavin Arno; Keren J Carss; Michael Niblock; Naushin Waseem; Michael E. Cheetham; Michel Michaelides; Anthony T Moore; F Lucy Raymond; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4467.

ARVO Annual Meeting Abstract July 2018

CRISPR-derived mouse model of North Carolina Macular Dystrophy reveals in trans tissue-specific upregulation of PRDM13

Raquel Sofia Silva; Katerina Kraft; Gavin Arno; Verena Heinrich; Nikolas Pontikos; Valentina Cipriani; Bernard Puech; Anthony T Moore; Veronica Van Heyningen; Stefan Mundlos; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):6026.

ARVO Annual Meeting Abstract July 2018

Characterization of retinal structure in ATF6 -associated achromatopsia

Rebecca Mastey; Michalis Georgiou; Christopher S Langlo; Angelos Kalitzeos; Ajoy Vincent; Anthony T Moore; Stephen H. Tsang; Jonathan H Lin; Marielle Young; M Elizabeth Hartnett; Elise Heon; Susanne Kohl; Michel Michaelides; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):669.

ARVO Annual Meeting Abstract June 2017

Comparison of retinal development in idiopathic infantile nystagmus and nystagmus associated with albinism, PAX6 mutations and achromatopsia.

Mervyn George Thomas; Viral Sheth; Gail Maconachie; Sarim Ather; Rebecca Jane McLean; Frank A Proudlock; Susanne Kohl; Bart Peter Leroy; Anthony T Moore; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):861.

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Residual Neuropathy Target Esterase activity predicts retinopathy among PNPLA6 disorders

IMI—Management and Investigation of High Myopia in Infants and Young Children

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

Using human LCA7 retinal organoids to establish allele-specific editing as a therapy

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

Investigating the genotype-phenotype relationships of patient specific PNPLA6 mutations

Establishing an in vitro human Leber congenital amaurosis model system

Expanding the FDXR -Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

Surgical Treatment of Children with Cyclic Esotropia

Multi-Exon Deletion Alleles of ATF6 Linked to Achromatopsia

Creating an in vitro Leber congenital amaurosis model to investigate disease mechanisms

Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration

Pathogenic structural and non-coding variants in retinal dystrophy identified through the 100,000 genomes project

Factor H-Related Protein 4 (FHR-4) drives complement dysregulation in age-related macular degeneration

Genetic basis of inherited retinal disease in a UK cohort of over 2900 families

Characterization of Retinal Structure in ATF6 -Associated Achromatopsia

Whole genome analysis of inherited retinal disease patients reveals mutations intractable to other detection strategies

CRISPR-derived mouse model of North Carolina Macular Dystrophy reveals in trans tissue-specific upregulation of PRDM13

Characterization of retinal structure in ATF6 -associated achromatopsia

Comparison of retinal development in idiopathic infantile nystagmus and nystagmus associated with albinism, PAX6 mutations and achromatopsia.

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