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Articles May 2020

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D -Associated Retinal Disorder

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Xiao Liu; Kaoru Fujinami; Kazuki Kuniyoshi; Mineo Kondo; Shinji Ueno; Takaaki Hayashi; Kiyofumi Mochizuki; Shuhei Kameya; Lizhu Yang; Yu Fujinami-Yokokawa; Gavin Arno; Nikolas Pontikos; Hiroyuki Sakuramoto; Taro Kominami; Hiroko Terasaki; Satoshi Katagiri; Kei Mizobuchi; Natsuko Nakamura; Kazutoshi Yoshitake; Yozo Miyake; Shiying Li; Toshihide Kurihara; Kazuo Tsubota; Takeshi Iwata; Kazushige Tsunoda; Japan Eye Genetics Consortium
TAGS: cohort studies, family, genetics, japanese, retinal diseases, phenotype, eye, visual acuity
Trans. Vis. Sci. Tech.. 2020; 9(6):2. doi: https://doi.org/10.1167/tvst.9.6.2

Includes: Supplemental Content

Genetics August 2019

Phenotypical Characteristics of POC1B -Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

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Shuhei Kameya; Kaoru Fujinami; Shinji Ueno; Takaaki Hayashi; Kazuki Kuniyoshi; Ryuichi Ideta; Sachiko Kikuchi; Daiki Kubota; Kazutoshi Yoshitake; Satoshi Katagiri; Hiroyuki Sakuramoto; Taro Kominami; Hiroko Terasaki; Lizhu Yang; Yu Fujinami-Yokokawa; Xiao Liu; Gavin Arno; Nikolas Pontikos; Yozo Miyake; Takeshi Iwata; Kazushige Tsunoda; for the Japan Eye Genetics Consortium
TAGS: cohort studies, cone dystrophy, eye, japanese, ophthalmology, ophthalmoscopy, retinal diseases, universities, spectral-domain optical coherence tomography, mutation
Invest. Ophthalmol. Vis. Sci.. 2019; 60(10):3432-3446. doi: https://doi.org/10.1167/iovs.19-26650

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Awareness of olfactory impairment in a cohort of patients with CNGB1 -associated retinitis pigmentosa

Farid Afshar; Gavin Arno; Rola Ba-Abbad; Simona Degli Esposti; Michel Michaelides; Andrew Webster; Omar Mahroo

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5423. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Clinical and molecular characterization of autosomal recessive and X-linked incomplete congenital stationary night blindness

Rola Ba-Abbad; Gavin Arno; Omar Abdul Rahman Mahroo; Michel Michaelides; Andrew Webster; Anthony G Robson

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5950. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Genetic basis of inherited retinal disease in a UK cohort of over 2900 families

Omar Abdul Rahman Mahroo; NIKOLAS PONTIKOS; Gavin Arno; Rola Ba-Abbad; Samantha Malka; Genevieve Wright; Monica Armengol; Menachem Katz; Anthony Moore; Michel Michaelides; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):401. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Pathogenic structural and non-coding variants in retinal dystrophy identified through the 100,000 genomes project

Gavin Arno; Jamie Ellingford; Fabiana Louise Motta; Kathryn Oprych; Rola Ba-Abbad; Omar Abdul Rahman Mahroo; Anthony Moore; Graeme Black; Michel Michaelides; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1755. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Prediction of Causative Genes in Inherited Retinal Disorders From Spectral-domain Optical Coherent Tomography Utilizing Deep Learning Techniques

Yu Yokokawa Fujinami; NIKOLAS PONTIKOS; Lizhu Yang; Kazutoshi Yoshitake; Kazushige Tsunoda; Gavin Arno; Takeshi Iwata; Hiroaki Miyata; Kaoru Fujinami

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2950. doi: https://doi.org/

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 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: https://doi.org/

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: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Multimodal imaging of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease): EAOMD Report No. 3

Kwangsic Joo; Lizhu Yang; Kazushige Tsunoda; Mineo Kondo; Yu Fujinami; Gavin Arno; Toshihide Kurihara; Kazuo Tsubota; Takeshi Iwata; Xuan Zou; Hui Li; Yozo Miyake; Kyu Hyung Park; Kaoru Fujinami; Ruifang Sui; Se Joon Woo

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1430. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.1

Kaoru Fujinami; Lizhu Yang; Kwangsic Joo; Kazushige Tsunoda; Yuichi Kawamura; Yu Fujinami; Gavin Arno; Toshihide Kurihara; Kazuo Tsubota; Xuan Zou; Hui Li; Kyu Hyung Park; Takeshi Iwata; Yozo Miyake; Se Joon Woo; Ruifang Sui

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1431. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.4

Yu Fujinami; Lizhu Yang; Kwangsic Joo; Kazushige Tsunoda; Mineo Kondo; Gavin Arno; XIAO LIU; Kazuo Tsubota; Takeshi Iwata; Xuan Zou; Hui Li; Kyu Hyung Park; Yozo Miyake; Se Joon Woo; Ruifang Sui; Kaoru Fujinami

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1432. 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/

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

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

ARVO Annual Meeting Abstract September 2016

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Basamat Almoallem; Gavin Arno; Julie De Zaeytijd; Sarah Hull; Martina Suzani; Thomy J. L. de Ravel; Andrew Webster; Bart Peter Leroy; Tony Moore; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6584. doi: https://doi.org/

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, retinal dystrophies, homozygote
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):4806-4813. doi: https://doi.org/10.1167/iovs.16-19687

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

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: https://doi.org/

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Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D -Associated Retinal Disorder

Phenotypical Characteristics of POC1B -Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Awareness of olfactory impairment in a cohort of patients with CNGB1 -associated retinitis pigmentosa

Clinical and molecular characterization of autosomal recessive and X-linked incomplete congenital stationary night blindness

Genetic basis of inherited retinal disease in a UK cohort of over 2900 families

Pathogenic structural and non-coding variants in retinal dystrophy identified through the 100,000 genomes project

Prediction of Causative Genes in Inherited Retinal Disorders From Spectral-domain Optical Coherent Tomography Utilizing Deep Learning Techniques

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

CRISPR-derived mouse model of North Carolina Macular Dystrophy reveals in trans tissue-specific upregulation of PRDM13

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

Multimodal imaging of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease): EAOMD Report No. 3

Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.1

Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.4

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

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

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

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

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

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

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

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