Search | IOVS | ARVO Journals

Showing 1 – 20 of 98

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

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. doi:

Genetics December 2021

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

PDF

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

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. 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:

Genetics May 2021

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

PDF

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. doi: https://doi.org/10.1167/iovs.62.6.2

Includes: Supplemental Content

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

PDF

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. doi: https://doi.org/10.1167/tvst.9.6.26

Includes: Supplemental Content

Retina June 2019

Characterization of Retinal Structure in ATF6 -Associated Achromatopsia

PDF

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. doi: 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. doi:

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. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract June 2017

Complex interaction and Hardy-Weinberg disequilibrium of ABCA4 disease-causing alleles provides insights into the pathogenesis of retinopathy

Ana Fakin; Valentina Cipriani; Stanley Lambertus; Nathalie Bax; Anthony G Robson; Kaoru Fujinami; John Chiang; Anthony T Moore; Michel Michaelides; Graham E Holder; Carel C B Hoyng; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3423. doi:

Retina June 2017

Specific Alleles of CLN7 / MFSD8 , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

PDF

Kamron N. Khan; Mohammed E. El-Asrag; Cristy A. Ku; Graham E. Holder; Martin McKibbin; Gavin Arno; James A. Poulter; Keren Carss; Tejaswi Bommireddy; Saghar Bagheri; Benjamin Bakall; Hendrik P. Scholl; F. Lucy Raymond; Carmel Toomes; Chris F. Inglehearn; Mark E. Pennesi; Anthony T. Moore; Michel Michaelides; Andrew R. Webster; Manir Ali; for NIHR BioResource-Rare Diseases and UK Inherited Retinal Disease Consortium
TAGS: alleles, mutation, photoreceptors, presynaptic terminals, proteins, retinal dystrophies, retinal diseases, retina, fluorescent antibody technique, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):2906-2914. doi: https://doi.org/10.1167/iovs.16-20608

Includes: Supplemental Content

Visual Neuroscience January 2017

The Pattern of Retinal Ganglion Cell Loss in OPA1 -Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses

PDF

Anna Majander; Catarina João; Andrew T. Rider; G. Bruce Henning; Marcela Votruba; Anthony T. Moore; Patrick Yu-Wai-Man; Andrew Stockman
TAGS: dead on arrival, optic atrophy, autosomal dominant, retinal cone, visual impairment, contrast sensitivity, retinal ganglion cells
Invest. Ophthalmol. Vis. Sci.. 2017; 58(1):502-516. doi: https://doi.org/10.1167/iovs.16-20309

Retina November 2016

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients

PDF

Ana Fakin; Anthony G. Robson; John (Pei-Wen) Chiang; Kaoru Fujinami; Anthony T. Moore; Michel Michaelides; Graham E. Holder; Andrew R. Webster
TAGS: mutation, hemizygosity, alleles, severity of illness, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):5963-5973. doi: https://doi.org/10.1167/iovs.16-20446

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Characterisation of temporal vision in congenital stationary night blindness

Rola Ba-Abbad; Andrew Webster; Anthony T Moore; Michel Michaelides; Bart Peter Leroy; Andrew Stockman

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

ARVO Annual Meeting Abstract September 2016

Survey of ophthalmic and systemic features in patients with PNPLA6 -related disorders

Robert B Hufnagel; Sarah Hull; Jose Luiz Pedroso; Shuan Dai; Andrea Nemeth; Helene Dollfus; Brian Patrick Brooks; Robert Sisk; Michel Michaelides; Anthony T Moore; Zubair Ahmed

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6564. doi:

ARVO Annual Meeting Abstract September 2016

Full field ERG responses and fundus autofluorescence of Stargardt patients harboring different non-null ABCA4 alleles in trans with null alleles

Ana Fakin; Anthony G Robson; Michel Michaelides; John (pei wen) Chiang; Anthony T Moore; Graham E Holder; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6589. doi:

ARVO Annual Meeting Abstract September 2016

Temporal, spatial and chromatic sensitivity losses associated with OPA1 mutations

Anna Majander; Patrick Yu-Wai-Man; Catarina João; Marcela Votruba; Anthony T Moore; Andrew Stockman

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):625. doi:

ARVO Annual Meeting Abstract September 2016

The fundus phenotype associated with the p.Ala243Val BEST1 mutation.

Kamron N Khan; Graham E Holder; Andrew Webster; Anthony G Robson; Anthony T Moore; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):654. doi:

1 2 3 4 5

Next 20 Results »

NARROW

Content Type

Journal

Article Type

Topics

Tags

Specify Date Range

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

Establishing an in vitro human Leber congenital amaurosis model system

Investigating the genotype-phenotype relationships of patient specific PNPLA6 mutations

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

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

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.

Complex interaction and Hardy-Weinberg disequilibrium of ABCA4 disease-causing alleles provides insights into the pathogenesis of retinopathy

Specific Alleles of CLN7 / MFSD8 , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

The Pattern of Retinal Ganglion Cell Loss in OPA1 -Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients

Characterisation of temporal vision in congenital stationary night blindness

Survey of ophthalmic and systemic features in patients with PNPLA6 -related disorders

Full field ERG responses and fundus autofluorescence of Stargardt patients harboring different non-null ABCA4 alleles in trans with null alleles

Temporal, spatial and chromatic sensitivity losses associated with OPA1 mutations

The fundus phenotype associated with the p.Ala243Val BEST1 mutation.

To View More...

You must be signed into an individual account to use this feature.