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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: 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

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 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 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, 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: 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: mutation, family, genes, retinitis pigmentosa, tubulin, proteins, autosomal recessive inheritance
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6180-6187. doi: 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:

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: 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: 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:

ARVO Annual Meeting Abstract June 2015

Biallelic mutations in RBP3 encoding interphotoreceptor binding protein (IRBP) cause an early onset retinal dystrophy and high myopia

Gavin Arno; Sarah Hull; Anthony G Robson; Graham E Holder; Andrew Webster; Vincent Plagnol; Anthony T Moore

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2892. doi:

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: 10.1167/iovs.15-16520

Genetics October 2014

The Phenotypic Variability of Retinal Dystrophies Associated With Mutations in CRX , With Report of a Novel Macular Dystrophy Phenotype

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Sarah Hull; Gavin Arno; Vincent Plagnol; Sarah Chamney; Isabelle Russell-Eggitt; Dorothy Thompson; Simon C. Ramsden; Graeme C. M. Black; Anthony Robson; Graham E. Holder; Anthony T. Moore; Andrew R. Webster
TAGS: phenotype, mutation, family, macular dystrophy, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2014; 55(10):6934-6944. doi: 10.1167/iovs.14-14715

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Phenotypic variability of retinal dystrophies associated with mutations in CRX: with report of a novel macular dystrophy phenotype

Sarah Hull; Gavin Arno; Sarah Chamney; Isabelle Russell-Eggitt; Anthony G Robson; Graham E Holder; Andrew Webster; Anthony T Moore

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3279. doi:

ARVO Annual Meeting Abstract June 2013

Phenotypic variability in paediatric cases of enhanced S-cone syndrome (ESCS)

Gavin Arno; Panagiotis Sergouniotis; Arundhati Dev Borman; Aman Chandra; Graham Holder; Anthony Robson; Andrew Webster; Anthony Moore

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1319. doi:

ARVO Annual Meeting Abstract June 2013

Evidence of the role of ADAMTS18 in ocular development

Aman Chandra; Gavin Arno; Panagiotis Sergouniotis; Arundhati Dev Borman; Andrew Webster; Anthony Moore

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1346. doi:

Genetics July 2012

A Genotype-Phenotype Comparison of ADAMTSL4 and FBN1 in Isolated Ectopia Lentis

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Aman Chandra; Jose A. Aragon-Martin; Kathryn Hughes; Sabiha Gati; M. Ashwin Reddy; Charu Deshpande; Graham Cormack; Anne H. Child; David G. Charteris; Gavin Arno
TAGS: phenotype, mutation, cohort studies, ectopia lentis, genotype, cornea, eye
Invest. Ophthalmol. Vis. Sci.. 2012; 53(8):4889-4896. doi: 10.1167/iovs.12-9874

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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

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

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

Biallelic mutations in RBP3 encoding interphotoreceptor binding protein (IRBP) cause an early onset retinal dystrophy and high myopia

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

The Phenotypic Variability of Retinal Dystrophies Associated With Mutations in CRX , With Report of a Novel Macular Dystrophy Phenotype

Phenotypic variability of retinal dystrophies associated with mutations in CRX: with report of a novel macular dystrophy phenotype

Phenotypic variability in paediatric cases of enhanced S-cone syndrome (ESCS)

Evidence of the role of ADAMTS18 in ocular development

A Genotype-Phenotype Comparison of ADAMTSL4 and FBN1 in Isolated Ectopia Lentis

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