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Genetics December 2019

Deep Phenotyping of PDE6C -Associated Achromatopsia

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Michalis Georgiou; Anthony G. Robson; Navjit Singh; Nikolas Pontikos; Thomas Kane; Nashila Hirji; Caterina Ripamonti; Tryfon Rotsos; Alfredo Dubra; Angelos Kalitzeos; Andrew R. Webster; Joseph Carroll; Michel Michaelides
TAGS: achromatopsia, diagnostic imaging, electroretinography, eye, fundus autofluorescence imaging, mosaicism, phenotype determination, retinal cone, spectral-domain optical coherence tomography, pathologic nystagmus
Invest. Ophthalmol. Vis. Sci.. 2019; 60(15):5112-5123. doi: https://doi.org/10.1167/iovs.19-27761

Includes: Supplemental Content

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: https://doi.org/10.1167/iovs.18-25061

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Genome-wide RNA-Sequencing analysis reveals a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery

Cynthia Yu-Wai-Man; Nicholas Owen; Jonathan Lees; Aristides D. Tagalakis; Stephen L. Hart; Andrew R Webster; Christine A Orengo; Peng Tee Khaw

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2140. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Mutations in the X-linked gene PRPS1 cause retinal degeneration in females

Alessia Fiorentino; Gavin Arno; Nikolas Pontikos; Kaoru Fujinami; Takaaki Hayashi; Vincent Plagnol; Michael E Cheetham; Takeshi Iwata; Andrew R Webster; Michel Michaelides; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1243. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Mutations in SLC38A8 and FOXD1 in patients with nystagmus and foveal hypoplasia.

Emma Catherine Lord; James A. Poulter; Andrew R Webster; Panagiotis Sergouniotis; Kamron N Khan; Paul J Benke; Lee Friedman; Manir Ali; Chris F Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2786. doi: https://doi.org/

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: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Clinical, optical coherence tomography and fundus autofluorescence findings in atrophic maculopathy associated with pseudoxanthoma elasticum

Panagiotis Vasilopoulos; Andrew R Webster; Catherine A Egan; Hemal Mehta; Philip G Hykin

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4639. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt disease

Silvia Albert; Riccardo Sangermano; Alejandro Garanto; Miriam Bauwens; Ana Fakin; Ingeborgh Van Den Born; Andrew R Webster; Elfride De Baere; Heidi Stoehr; Bernhard HF Weber; Carel C B Hoyng; Rob W J Collin; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5580. doi: https://doi.org/

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: https://doi.org/10.1167/iovs.16-20608

Includes: Supplemental Content

Articles December 2016

A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics

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Jasleen K. Jolly; Siegfried K. Wagner; Jonathan Moules; Florian Gekeler; Andrew R. Webster; Susan M. Downes; Robert E. MacLaren
TAGS: retinitis pigmentosa, autofluorescence, luminance
Trans. Vis. Sci. Tech.. 2016; 5(6):10. doi: https://doi.org/10.1167/tvst.5.6.10

Includes: Supplemental Content

Genetics November 2016

Mutations in AGBL5 , Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

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Galuh D. N. Astuti; Gavin Arno; Sarah Hull; Laurence Pierrache; Hanka Venselaar; Keren Carss; F. Lucy Raymond; Rob W. J. Collin; Sultana M. H. Faradz; L. Ingeborgh van den Born; Andrew R. Webster; Frans P. M. Cremers
TAGS: mutation, family, genes, retinitis pigmentosa, tubulin, proteins, autosomal recessive inheritance
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6180-6187. doi: https://doi.org/10.1167/iovs.16-20148

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: https://doi.org/10.1167/iovs.16-20446

Includes: Supplemental Content

Low Vision September 2016

Standing Balance Stability and the Effects of Light Touch in Adults With Profound Loss of Vision—An Exploratory Study

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Aachal Kotecha; Andrew Royston Webster; Genevieve Wright; Michel Michaelides; Gary Stuart Rubin
TAGS: blindness, adult, equilibrium, therapeutic touch, touch sensation, balance, device
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):5053-5059. doi: https://doi.org/10.1167/iovs.16-19606

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: https://doi.org/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: https://doi.org/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: https://doi.org/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: https://doi.org/10.1167/iovs.15-17604

Includes: Supplemental Content

Genetics April 2015

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy

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Gavin Arno; Sarah Hull; Anthony G. Robson; Graham E. Holder; Michael E. Cheetham; Andrew R. Webster; Vincent Plagnol; Anthony T. Moore
TAGS: mutation, retinal cone, family, homozygote, myopia, retinol binding proteins, rod photoreceptors, mutation, nonsense, e2f1 gene, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2015; 56(4):2358-2365. doi: https://doi.org/10.1167/iovs.15-16520

Clinical and Epidemiologic Research March 2015

Efficacy and Prognostic Factors of Response to Carbonic Anhydrase Inhibitors in Management of Cystoid Macular Edema in Retinitis Pigmentosa

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Gerald Liew; Anthony T. Moore; Andrew R. Webster; Michel Michaelides
TAGS: acetazolamide, carbonic anhydrase inhibitors, education, medical, continuing, macular edema, cystoid, retinitis pigmentosa, eye, dorzolamide, autosomal recessive inheritance, prognostic factors
Invest. Ophthalmol. Vis. Sci.. 2015; 56(3):1531-1536. doi: https://doi.org/10.1167/iovs.14-15995

Visual Psychophysics and Physiological Optics November 2014

Genotype-Dependent Variability in Residual Cone Structure in Achromatopsia: Toward Developing Metrics for Assessing Cone Health

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Adam M. Dubis; Robert F. Cooper; Jonathan Aboshiha; Christopher S. Langlo; Venki Sundaram; Benjamin Liu; Frederick Collison; Gerald A. Fishman; Anthony T. Moore; Andrew R. Webster; Alfredo Dubra; Joseph Carroll; Michel Michaelides
TAGS: retinal cone, genotype, health, photoreceptors, diagnostic imaging, mosaicism, achromatopsia, personal integrity
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7303-7311. doi: https://doi.org/10.1167/iovs.14-14225

Includes: Supplemental Content

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Deep Phenotyping of PDE6C -Associated Achromatopsia

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

Genome-wide RNA-Sequencing analysis reveals a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery

Mutations in the X-linked gene PRPS1 cause retinal degeneration in females

Mutations in SLC38A8 and FOXD1 in patients with nystagmus and foveal hypoplasia.

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

Clinical, optical coherence tomography and fundus autofluorescence findings in atrophic maculopathy associated with pseudoxanthoma elasticum

Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt disease

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

A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics

Mutations in AGBL5 , Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

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

Standing Balance Stability and the Effects of Light Touch in Adults With Profound Loss of Vision—An Exploratory Study

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

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy

Efficacy and Prognostic Factors of Response to Carbonic Anhydrase Inhibitors in Management of Cystoid Macular Edema in Retinitis Pigmentosa

Genotype-Dependent Variability in Residual Cone Structure in Achromatopsia: Toward Developing Metrics for Assessing Cone Health

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