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ARVO Annual Meeting Abstract June 2020

Diminished light adaptation effect seen in cone-driven responses in GRK1 -associated Oguchi disease: evidence for possible rod input to cone adaptation pathways

ZIHE XU; Xiaofan Jiang; James Bellingham; Zakariya Jarrar; Christopher Hammond; Andrew R. Webster; Nigel Davies; Moin Mohamed; Gavin Arno; Pirro G Hysi; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5052. doi:

ARVO Annual Meeting Abstract June 2020

Tracking Slowed Dark Adaptation Dynamically in Vitamin A deficiency and retinal disease by electroretinogram

Xiaofan Jiang; Shaun Leo; Isabelle Chow; Mathura Indusegaran; Anthony G Robson; Andrew R. Webster; Christopher Hammond; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5053. doi:

ARVO Annual Meeting Abstract June 2020

Comparison of white light and scanning laser ophthalmoscopy ultra-widefield pseudocolor reflectance images in foveal hypoplasia

Simona Degli Esposti; Mohamed Rashad; Matt Robertson; Vivi Riga; Navjit Singh; Mariya Moosajee; Michel Michaelides; Andrew R. Webster; Omar A Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5304. doi:

ARVO Annual Meeting Abstract June 2020

The clinical and genetic characteristics of patients with biallelic RLBP1 -mediated retinopathy

Emma Sara Duignan; Anthony G Robson; Elena Schiff; Genevieve Wright; Hannah Knight; Michel Michaelides; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1952. doi:

ARVO Annual Meeting Abstract June 2020

Ceramide synthase TLCD3B as a novel gene associated with human recessive cone-rod dystrophy and maculopathy

Rui Chen; Renae Elaine Bertrand; Jun Wang; Kaitlyn H. Xiong; Chinthana Thangavel; Xinye Qian; Rola Ba-Abbad; Renata Simoes; Shirley Aparecida Madureira Sampaio; Keren J. Carss; F. Lucy Raymond; Anthony G Robson; Yumei Li; Andrew R. Webster; Gavin Arno; Fernanda Belga Ottoni Porto

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1953. doi:

ARVO Annual Meeting Abstract June 2020

Exploring rod system dysfunction in patients with CRX -associated retinopathy

Rola Ba-Abbad; Shaun Leo; Xiaofan Jiang; Isabelle Chow; Mathura Indusegaran; Christopher Hammond; Michel Michaelides; Andrew R. Webster; Anthony G Robson; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3989. doi:

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

Includes: Supplemental Content

Retina March 2020

Photoreceptor Structure in GNAT2 -Associated Achromatopsia

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Michalis Georgiou; Navjit Singh; Thomas Kane; Anthony G. Robson; Angelos Kalitzeos; Nashila Hirji; Andrew R. Webster; Alfredo Dubra; Joseph Carroll; Michel Michaelides
TAGS: achromatopsia, diagnostic imaging, mosaicism, phenotype determination, photoreceptors, retinal cone, eye, color vision, spectral domain-optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2020; 61(3):40. doi: https://doi.org/10.1167/iovs.61.3.40

Includes: Supplemental Content

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, retinal diseases, signs and symptoms, genetic pedigree
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:

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:

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:

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

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:

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:

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, 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

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: autofluorescence, retinitis pigmentosa, 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: autosomal recessive inheritance, mutation, retinitis pigmentosa, tubulin, family, genes, proteins
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: 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

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Diminished light adaptation effect seen in cone-driven responses in GRK1 -associated Oguchi disease: evidence for possible rod input to cone adaptation pathways

Tracking Slowed Dark Adaptation Dynamically in Vitamin A deficiency and retinal disease by electroretinogram

Comparison of white light and scanning laser ophthalmoscopy ultra-widefield pseudocolor reflectance images in foveal hypoplasia

The clinical and genetic characteristics of patients with biallelic RLBP1 -mediated retinopathy

Ceramide synthase TLCD3B as a novel gene associated with human recessive cone-rod dystrophy and maculopathy

Exploring rod system dysfunction in patients with CRX -associated retinopathy

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

Photoreceptor Structure in GNAT2 -Associated Achromatopsia

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

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

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

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

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