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ARVO Annual Meeting Abstract July 2019

Retinotopic mapping of the primary visual cortex as an objective functional adjunct to conventional testing in patients with retinal disease

Maximilian Pawloff; Allan Hummer; Michael Woletz; Graham E. Holder; Georgios Mylonas; Markus Ritter; Christian Windischberger; Ursula Schmidt-Erfurth

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4745. doi:

Genetics October 2018

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

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Rola Ba-Abbad; Monique Leys; Xinjing Wang; Christina Chakarova; Naushin Waseem; Keren J. Carss; F. Lucy Raymond; Kinga M. Bujakowska; Eric A. Pierce; Omar A. Mahroo; Moin D. Mohamed; Graham E. Holder; Marybeth Hummel; Gavin Arno; Andrew R. Webster
TAGS: alleles, genes, genetic pedigree, retinal diseases, signs and symptoms
Invest. Ophthalmol. Vis. Sci.. 2018; 59(12):4812-4820. doi: 10.1167/iovs.18-25061

Includes: Supplemental Content

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:

ARVO Annual Meeting Abstract June 2017

Electrophysiological Characterization of Macular Telangiectasia Type 2 (MacTel)

Mali Okada; Anthony G Robson; Catherine A Egan; Ferenc Sallo; Simona Degli Esposti; Tjebo FC Heeren; Graham E Holder

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4886. 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

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

Baseline prognostic factors in patients with Birdshot retinochoriopathy( BRC) .

Chrysoula Koutsiouki; Anthony G Robson; Graham E Holder; Angela Rees; Carlos Pavesio; Mark C Westcott

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4122. 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

Linear regression analysis of electrodiagnostic parameters against time in patients with Birdshot Retinochoroidopathy (BRC)

elizabeth tsianta; Anthony G Robson; Angela Rees; Graham E Holder; Carlos Pavesio; Mark Westcott

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4503. 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

Long term vision results following retinal gene therapy for choroideremia

Robert E MacLaren; Thomas L Edwards; Jasleen Jolly; Alun R Barnard; Kanmin Xue; Susan Downes; Graham E Holder; Graeme C.M. Black; Andrew J Lotery; Andrew Webster; Miguel Seabra

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

ARVO Annual Meeting Abstract September 2016

Tacrolimus(TAC) In The Treatment Of Birdshot Retinochoroidopathy(BRC): Safety Profile and Efficacy

Farrah Islam; Luke Nicholson; Chysoula Koutsiouki; Mark Westcott; Angela Rees; Anthony G Robson; Carlos Pavesio; Graham E Holder

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5415. 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

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

Retina December 2015

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene

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Panagiotis I. Sergouniotis; Martin McKibbin; Anthony G. Robson; Hanno J. Bolz; Elfride De Baere; Philipp L. Müller; Raoul Heller; Mohammed E. El-Asrag; Kristof Van Schil; Vincent Plagnol; Carmel Toomes; UK Inherited Retinal Disease Consortium; Manir Ali; Graham E. Holder; Peter Charbel Issa; Bart P. Leroy; Chris F. Inglehearn; Andrew R. Webster
TAGS: mutation, genes, retinal diseases, autosomal recessive inheritance, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8083-8090. doi: 10.1167/iovs.15-17604

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

Molecular investigation of a large UK cohort of early onset retinal dystrophy

Sarah Hull; Robert Henderson; Phillip Moradi; Graham E Holder; Michel Michaelides; Andrew Webster; Donna Mackay; Gavin Arno; Anthony T Moore; Arun Dev Borman

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2867. doi:

ARVO Annual Meeting Abstract June 2015

Biallelic mutations in RBP3 encoding interphotoreceptor binding protein (IRBP) cause an early onset retinal dystrophy and high myopia

Gavin Arno; Sarah Hull; Anthony G Robson; Graham E Holder; Andrew Webster; Vincent Plagnol; Anthony T Moore

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2892. doi:

ARVO Annual Meeting Abstract June 2015

The distinct clinical features of adult-onset retinal dystrophy associated with carboxyl mutations in the RPGR-ORF15 gene

Rola Ba-Abbad; Panagiotis Sergouniotis; Anthony T Moore; Michel Michaelides; Graeme C.M. Black; Simon C. Ramsden; Anthony G Robson; Graham E Holder; Vincent Plagnol; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2896. doi:

ARVO Annual Meeting Abstract June 2015

Phenotype and progression of retinal degeneration in patients nullizygous for ABCA4

Ana Fakin; Anthony G Robson; Graham E Holder; Kaoru Fujinami; Rando Allikmets; Jana Zernant; Anthony T Moore; Michel Michaelides; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2897. doi:

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Retinotopic mapping of the primary visual cortex as an objective functional adjunct to conventional testing in patients with retinal disease

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

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

Electrophysiological Characterization of Macular Telangiectasia Type 2 (MacTel)

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

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

Baseline prognostic factors in patients with Birdshot retinochoriopathy( BRC) .

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

Linear regression analysis of electrodiagnostic parameters against time in patients with Birdshot Retinochoroidopathy (BRC)

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

Long term vision results following retinal gene therapy for choroideremia

Tacrolimus(TAC) In The Treatment Of Birdshot Retinochoroidopathy(BRC): Safety Profile and Efficacy

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

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

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene

Molecular investigation of a large UK cohort of early onset retinal dystrophy

Biallelic mutations in RBP3 encoding interphotoreceptor binding protein (IRBP) cause an early onset retinal dystrophy and high myopia

The distinct clinical features of adult-onset retinal dystrophy associated with carboxyl mutations in the RPGR-ORF15 gene

Phenotype and progression of retinal degeneration in patients nullizygous for ABCA4

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