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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. doi: 10.1167/iovs.19-27047

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 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 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

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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, presynaptic terminals, mutation, fluorescent antibody technique, photoreceptors, retinal diseases, retinitis pigmentosa, proteins, retina, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):2906-2914. doi: 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

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

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

Includes: Supplemental Content

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

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:

ARVO Annual Meeting Abstract September 2016

Rescue of MerTK retinitis pigmentosa using a human induced pluripotent stem cell disease model

Conor M Ramsden; Britta Nommiste; Amelia Lane; Michael Powner; Amanda-Jayne Francis Carr; Andrew Webster; Anthony T Moore; Lyndon da Cruz; Pete Coffey

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):1141. 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

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:

Genetics September 2016

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1

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Gavin Arno; Sarah Hull; Keren Carss; Arundhati Dev-Borman; Christina Chakarova; Kinga Bujakowska; L. Ingeborgh van den Born; Anthony G. Robson; Graham E. Holder; Michel Michaelides; Frans P. M. Cremers; Eric Pierce; F. Lucy Raymond; Anthony T. Moore; Andrew R. Webster
TAGS: alleles, mutation, homozygote, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):4806-4813. doi: 10.1167/iovs.16-19687

Includes: Supplemental Content

Retina September 2016

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4

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Ana Fakin; Anthony G. Robson; Kaoru Fujinami; Anthony T. Moore; Michel Michaelides; John (Pei-Wen) Chiang; Graham E. Holder; Andrew R. Webster
TAGS: phenotype, mutation, age of onset, electroretinography, retinal degeneration, rna splicing, visual acuity, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):4668-4678. doi: 10.1167/iovs.16-19829

Includes: Supplemental Content

Articles May 2016

Selective Automated Perimetry Under Photopic, Mesopic, and Scotopic Conditions: Detection Mechanisms and Testing Strategies

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Matthew P. Simunovic; Anthony T. Moore; Robert E. MacLaren
TAGS: retinal cone, patient isolation, perimetry, photoreceptors, rod photoreceptors
Trans. Vis. Sci. Tech.. 2016; 5(3):10. doi: 10.1167/tvst.5.3.10

Genetics March 2016

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140

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Sarah Hull; Nicholas Owen; Farrah Islam; Dhani Tracey-White; Vincent Plagnol; Graham E. Holder; Michel Michaelides; Keren Carss; F. Lucy Raymond; Jean-Michel Rozet; Simon C. Ramsden; Graeme C. M. Black; Isabelle Perrault; Ajoy Sarkar; Mariya Moosajee; Andrew R. Webster; Gavin Arno; Anthony T. Moore
TAGS: mutation, biological transport, family, genes, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2016; 57(3):1053-1062. doi: 10.1167/iovs.15-17976

Includes: Supplemental Content

Article November 2015

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

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Caterina Ripamonti; G. Bruce Henning; Scott J. Robbie; Venki Sundaram; L. Ingeborgh van den Born; Ingele Casteels; Thomy J. L. de Ravel; Anthony T. Moore; Alexander J. Smith; James W. Bainbridge; Robin R. Ali; Andrew Stockman
TAGS: gene therapy, retinal cone, rod photoreceptors, photopsia, bleach
Journal of Vision. 2015; 15(15):20. doi: 10.1167/15.15.20

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Characterization of Retinal Structure in ATF6 -Associated Achromatopsia

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

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

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

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

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

Rescue of MerTK retinitis pigmentosa using a human induced pluripotent stem cell disease model

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

Characterisation of temporal vision in congenital stationary night blindness

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4

Selective Automated Perimetry Under Photopic, Mesopic, and Scotopic Conditions: Detection Mechanisms and Testing Strategies

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

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