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ARVO Annual Meeting Abstract June 2021

Evaluating the diagnostic yield of whole genome sequencing in genetic eye disease

Samantha Malka; Elena Schiff; Hannah Knight; Genevieve Wright; Ainoa Cordoba Gimenez; Michel Michaelides; Patrick Yu-Wai-Man; Omar Abdul Rahman Mahroo; Gavin Arno; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1556. doi:

ARVO Annual Meeting Abstract June 2021

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Alfredo Dueñas Rey; Muhammad Imran Khan; Mubeen Khan; Miriam Bauwens; Toon Rosseel; Dror Sharon; Robert K Koenekoop; Gavin Arno; Andrew Webster; Carmel Toomes; Claire-Marie Dhaenens; Frans P.M. Cremers; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1451. doi:

ARVO Annual Meeting Abstract June 2021

Exploration of associations between a prevalent Stargardt disease-associated variant in ABCA4 and retinal thickness in the general population

Pirro G Hysi; Mark James Simcoe; Gavin Arno; Tony Ko; Paveen J Patel; Omar Abdul Rahman Mahroo; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2202. doi:

ARVO Annual Meeting Abstract June 2021

The clinical features and variability of retinopathy consequent upon homozygous mutation of LAMA1 in three affected siblings

Elena Schiff; Nancy Aychoua; Savita Nutan; Gavin Arno; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1569. doi:

ARVO Annual Meeting Abstract June 2021

A founder allele deleting CRX causes late-onset macular disease by haploinsufficiency

samar Yahya; Claire Smith; James Poulter; Martin McKibbin; Gavin Arno; Jamie Ellingford; Andrew Webster; Graeme Black; Manir Ali; Carmel Toomes; Chris Inglehearn

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1536. doi:

ARVO Annual Meeting Abstract June 2021

Mutational profile of the most common genes causing inherited retinal diseases in a large molecularly characterized cohort from the United Kingdom

Sandra Vermeirsch; Nikolas Pontikos; Samantha Malka; Michel Michaelides; Andrew Webster; Omar Abdul Rahman Mahroo; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1521. doi:

ARVO Annual Meeting Abstract June 2021

Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone-Rod Dystrophy and Hearing Loss

Giulia Ascari; Nanna D. Rendtorff; Marieke De Bruyne; Julie De Zaeytijd; Michel Van Lint; Mattias Van Heetvelde; Alfredo Dueñas Rey; Gavin Arno; Julie Jacob; David Creytens; Jo Van Dorpe; Björn Menten; Mojca Strazisar; Mette Bertelsen; Lisbeth Tranebjærg; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1520. doi:

ARVO Annual Meeting Abstract June 2021

Investigating the genotype-phenotype relationships of patient specific PNPLA6 mutations

James Liu; Cara Lwin; Yi He; Gavin Arno; Anthony T Moore; Andrew Webster; Laryssa A Huryn; Bin Guan; Robert B Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1519. doi:

Genetics May 2021

Expanding the FDXR -Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

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Neringa Jurkute; Priya D. Shanmugarajah; Marios Hadjivassiliou; Jenny Higgs; Miodrag Vojcic; Iain Horrocks; Yann Nadjar; Valerie Touitou; Guy Lenaers; Roy Poh; James Acheson; Anthony G. Robson; F. Lucy Raymond; Mary M. Reilly; Patrick Yu-Wai-Man; Anthony T. Moore; Andrew R. Webster; Gavin Arno; for the Genomics England Research Consortium
TAGS: family, optic atrophy, phenotype, recurrence, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2021; 62(6):2. doi: https://doi.org/10.1167/iovs.62.6.2

Includes: Supplemental Content

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

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:

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:

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

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Evaluating the diagnostic yield of whole genome sequencing in genetic eye disease

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Exploration of associations between a prevalent Stargardt disease-associated variant in ABCA4 and retinal thickness in the general population

The clinical features and variability of retinopathy consequent upon homozygous mutation of LAMA1 in three affected siblings

A founder allele deleting CRX causes late-onset macular disease by haploinsufficiency

Mutational profile of the most common genes causing inherited retinal diseases in a large molecularly characterized cohort from the United Kingdom

Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone-Rod Dystrophy and Hearing Loss

Investigating the genotype-phenotype relationships of patient specific PNPLA6 mutations

Expanding the FDXR -Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

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

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

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

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

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