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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

Ethnicity of pathogenic variants in the ABCA4 gene: analysis of allele frequency in the general population

Yu Fujinami-Yokokawa; Izumi Naka; Nikolas Pontikos; Gavin Arno; Lizhu Yang; XIAO LIU; Shiying Li; Se Joon Woo; Rene Moya; Kazushige Tsunoda; Hiroaki Miyata; Jun Ohashi; Rupert W. Strauss; Hendrik P Scholl; Michel Michaelides; Kaoru Fujinami

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2390. doi:

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:

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

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:

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:

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:

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:

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:

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

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:

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:

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:

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 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 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:

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:

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

Ethnicity of pathogenic variants in the ABCA4 gene: analysis of allele frequency in the general population

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

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

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

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

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

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

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

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

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

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

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

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