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ARVO Annual Meeting Abstract June 2024

Early-onset sub-RPE deposits in late-onset retinal degeneration (L-ORD) caused by the c.489C>G (p.S163R) founder variant in C1QTNF5

Artur V Cideciyan; Randa TH Li; Alejandro J Roman; Alexander Sumaroka; Chloe M Stanton; Malgorzata Swider; Alexandra V Garafalo; Elise Heon; Ajoy Vincent; Alan F Wright; Roly Megaw; Tomas S Aleman; Andrew C Browning; Baljean Dhillon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1385.

ARVO Annual Meeting Abstract June 2024

Modelling pathogenic variants in C1QTNF5 to investigate genotype-phenotype correlations in late-onset retinal degeneration

Chloe M Stanton; Randa TH Li; John D Pound; Camilla Drake; Joseph A Marsh; Veronique Vitart; Andrew C Browning; Shyamanga Borooah; Roly Megaw; Alan F Wright; Caroline Hayward; Baljean Dhillon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4227.

ARVO Annual Meeting Abstract June 2024

Defining the late-onset retinal degeneration (L-ORD) phenotype: novel findings in clinical characterisation

Randa Li; Chloe M Stanton; Roly Megaw; Alan F Wright; Andrew C Browning; Artur V Cideciyan; Samuel G Jacobson; Baljean Dhillon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5396.

Retina December 2023

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

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Randa T. H. Li; Alejandro J. Roman; Alexander Sumaroka; Chloe M. Stanton; Malgorzata Swider; Alexandra V. Garafalo; Elise Heon; Ajoy Vincent; Alan F. Wright; Roly Megaw; Tomas S. Aleman; Andrew C. Browning; Baljean Dhillon; Artur V. Cideciyan
TAGS: gene editing, photoreceptors, retina, retinal degeneration, tissue degeneration, diagnostic imaging, retinal cone, fovea centralis, natural history, eye
Invest. Ophthalmol. Vis. Sci.. 2023; 64(15):33. https://doi.org/10.1167/iovs.64.15.33

Includes: Supplemental Content

Retina July 2018

Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations

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Alexandra V. Garafalo; Giacomo Calzetti; Artur V. Cideciyan; Alejandro J. Roman; Supna Saxena; Alexander Sumaroka; Windy Choi; Alan F. Wright; Samuel G. Jacobson
TAGS: mutation, retinal cone, syndrome, vision, visual fields
Invest. Ophthalmol. Vis. Sci.. 2018; 59(8):3209-3219. https://doi.org/10.1167/iovs.18-24518

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Interocular Symmetry of Rod and Cone Topography in Human ORF15-RPGR -XLRP Disease Despite Large Intraretinal, Intrafamilial and Interfamilial Variation

Artur V Cideciyan; Jason Charng; Samuel G Jacobson; Alexander Sumaroka; Sharon B. Schwartz; Malgorzata Swider; Alejandro J Roman; Rebecca Sheplock; Manisha Anand; Marc C. Peden; Hemant Khanna; Elise Heon; Alan F. Wright; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3232.

Biochemistry and Molecular Biology October 2015

Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene

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Rakesh Kotapati Raghupathy; Philippe Gautier; Dinesh C. Soares; Alan F. Wright; Xinhua Shu
TAGS: genes, regulator, guanosine triphosphate phosphohydrolases, invertebrates, proteins, retinitis pigmentosa, vertebrates, zebrafish, protein isoforms, genes, exons
Invest. Ophthalmol. Vis. Sci.. 2015; 56(11):6255-6264. https://doi.org/10.1167/iovs.15-17726

Includes: Supplemental Content

Retina August 2012

RPGR- Associated Retinal Degeneration in Human X-Linked RP and a Murine Model

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Wei Chieh Huang; Alan F. Wright; Alejandro J. Roman; Artur V. Cideciyan; Forbes D. Manson; Dina Y. Gewaily; Sharon B. Schwartz; Sam Sadigh; Maria P. Limberis; Peter Bell; James M. Wilson; Anand Swaroop; Samuel G. Jacobson
TAGS: mice, retinal cone, retinal degeneration, retinal diseases, rod photoreceptors, x-linked inheritance, electroretinography, retina, histopathology tests, phenotype
Invest. Ophthalmol. Vis. Sci.. 2012; 53(9):5594-5608. https://doi.org/10.1167/iovs.12-10070

Includes: Supplemental Content

Biochemistry and Molecular Biology June 2012

Functional Characterization of the Human RPGR Proximal Promoter

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Xinhua Shu; Julie R. Simpson; Alan W. Hart; Zhihong Zeng; Sarita Rani Patnaik; Philippe Gautier; Emma Murdoch; Brian Tulloch; Alan F. Wright
TAGS: genes, luciferases, mice, transgenic, promoter regions (genetics), binding sites, transfection
Invest. Ophthalmol. Vis. Sci.. 2012; 53(7):3951-3958. https://doi.org/10.1167/iovs.11-8811

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Localized dysregulation of complement is involved in the pathogenesis of Late-Onset Retinal Macular Degeneration (LORMD)

Shyamanga Borooah; Bal Dhillon; James Ironside; Siddharthan Chandran; Alan F. Wright

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1643.

ARVO Annual Meeting Abstract March 2012

X-linked RP Caused by RPGR Mutations: Natural History of the Human Disease and an Rpgr-mutant Rodent Model

Wei Chieh Huang; Alejandro J. Roman; Artur V. Cideciyan; Dina Y. Gewaily; Maria P. Limberis; Peter Bell; James W. Wilson; Alan F. Wright; Anand Swaroop; Samuel G. Jacobson

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):2591.

ARVO Annual Meeting Abstract March 2012

Genetic Association of Glucose Transporter Type 1 Variants with Age-Related Macular Degeneration and its Direct Interaction with Complement Factor H at the Protein Level

Elod Kortvely; Anneke I. Den Hollander; Matteo Gorza; Valentina Cipriani; John R. Yates; Caroline Hayward; Alan F. Wright; Sascha Fauser; Carel C. Hoyng; Marius Ueffing

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):6483.

Genetics November 2011

Complement Factor D in Age-Related Macular Degeneration

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Chloe M. Stanton; John R.W. Yates; Anneke I. den Hollander; Johanna M. Seddon; Anand Swaroop; Dwight Stambolian; Sascha Fauser; Carel Hoyng; Yi Yu; Kanda Atsuhiro; Kari Branham; Mohammad Othman; Wei Chen; Elod Kortvely; Kevin Chalmers; Caroline Hayward; Anthony T. Moore; Baljean Dhillon; Marius Ueffing; Alan F. Wright
TAGS: age-related macular degeneration, complement factor d, copy number polymorphism, genes, genetics, plasma, single nucleotide polymorphism, cohort studies, mass or substance concentration per volume, complement pathway, alternative
Invest. Ophthalmol. Vis. Sci.. 2011; 52(12):8828-8834. https://doi.org/10.1167/iovs.11-7933

Retina May 2011

Knockdown of the Zebrafish Ortholog of the Retinitis Pigmentosa 2 ( RP2 ) Gene Results in Retinal Degeneration

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Xinhua Shu; Zhiqiang Zeng; Philippe Gautier; Alan Lennon; Milica Gakovic; Michael E. Cheetham; E. Elizabeth Patton; Alan F. Wright
TAGS: genes, retinal degeneration, retinitis pigmentosa, zebrafish, phenotype
Invest. Ophthalmol. Vis. Sci.. 2011; 52(6):2960-2966. https://doi.org/10.1167/iovs.10-6800

ARVO Annual Meeting Abstract April 2011

Evidence That the HTRA1 Interactome Influences Susceptibility to Age-Related Macular Degeneration

Chloe M. Stanton; Elod Kortvely; Kevin J. Chalmers; Stefanie M. Hauck; Marius Ueffing; Alan F. Wright

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3913.

ARVO Annual Meeting Abstract April 2011

Population Based Estimate Of The Sibling Recurrence Risk Ratio For Rhegmatogenous Retinal Detachment

Danny Mitry; Linda Williams; David G. Charteris; Brian Fleck; Alan F. Wright; Harry Campbell

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1236.

Clinical and Epidemiologic Research April 2011

Population-Based Estimate of the Sibling Recurrence Risk Ratio for Rhegmatogenous Retinal Detachment

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Danny Mitry; Linda Williams; David G. Charteris; Brian W. Fleck; Alan F. Wright; Harry Campbell
TAGS: radiation recall dermatitis, recurrence risk, relationship - sibling, rhegmatogenous retinal detachment, proband, myopia
Invest. Ophthalmol. Vis. Sci.. 2011; 52(5):2551-2555. https://doi.org/10.1167/iovs.10-6375

Retina November 2010

Complement Factor H Autoantibodies and Age-Related Macular Degeneration

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Baljean Dhillon; Alan F. Wright; Adnan Tufail; Isabel Pappworth; Caroline Hayward; Iain Moore; Lisa Strain; David Kavanagh; Paul N. Barlow; Andrew P. Herbert; Christoph Q. Schmidt; Ana-Maria Armbrecht; Augustinus Laude; Ian J. Deary; Scott J. Staniforth; Lucy V. Holmes; Timothy H. J. Goodship; Kevin J. Marchbank
TAGS: age-related macular degeneration, autoantibodies, complement factor h
Invest. Ophthalmol. Vis. Sci.. 2010; 51(11):5858-5863. https://doi.org/10.1167/iovs.09-5124

Clinical and Epidemiologic Research October 2010

The Epidemiology and Socioeconomic Associations of Retinal Detachment in Scotland: A Two-Year Prospective Population-Based Study

PDF

Danny Mitry; David G. Charteris; David Yorston; M. A. Rehman Siddiqui; Harry Campbell; Anna-Louise Murphy; Brian W. Fleck; Alan F. Wright; Jaswinder Singh; the Scottish RD Study Group
TAGS: epidemiology, incidence, radiation recall dermatitis, retinal detachment, scotland, socioeconomic factors
Invest. Ophthalmol. Vis. Sci.. 2010; 51(10):4963-4968. https://doi.org/10.1167/iovs.10-5400

Includes: Supplemental Content

Retina January 2006

Developmental and Tissue Expression of Xenopus laevis RPGR

PDF

Xinhua Shu; Zhihong Zeng; Marion S. Eckmiller; Phillipe Gautier; Dafni Vlachantoni; Forbes D. C. Manson; Brian Tulloch; Colin Sharpe; Dariusz C. Gorecki; Alan F. Wright
TAGS: body tissue, dna, complementary, proteins, renal cell carcinoma, xenopus laevis, eye, reverse transcriptase polymerase chain reaction, photoreceptors, rna, in situ hybridization
Invest. Ophthalmol. Vis. Sci.. 2006; 47(1):348-356. https://doi.org/10.1167/iovs.05-0858

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Early-onset sub-RPE deposits in late-onset retinal degeneration (L-ORD) caused by the c.489C>G (p.S163R) founder variant in C1QTNF5

Modelling pathogenic variants in C1QTNF5 to investigate genotype-phenotype correlations in late-onset retinal degeneration

Defining the late-onset retinal degeneration (L-ORD) phenotype: novel findings in clinical characterisation

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations

Interocular Symmetry of Rod and Cone Topography in Human ORF15-RPGR -XLRP Disease Despite Large Intraretinal, Intrafamilial and Interfamilial Variation

Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene

RPGR- Associated Retinal Degeneration in Human X-Linked RP and a Murine Model

Functional Characterization of the Human RPGR Proximal Promoter

Localized dysregulation of complement is involved in the pathogenesis of Late-Onset Retinal Macular Degeneration (LORMD)

X-linked RP Caused by RPGR Mutations: Natural History of the Human Disease and an Rpgr-mutant Rodent Model

Genetic Association of Glucose Transporter Type 1 Variants with Age-Related Macular Degeneration and its Direct Interaction with Complement Factor H at the Protein Level

Complement Factor D in Age-Related Macular Degeneration

Knockdown of the Zebrafish Ortholog of the Retinitis Pigmentosa 2 ( RP2 ) Gene Results in Retinal Degeneration

Evidence That the HTRA1 Interactome Influences Susceptibility to Age-Related Macular Degeneration

Population Based Estimate Of The Sibling Recurrence Risk Ratio For Rhegmatogenous Retinal Detachment

Population-Based Estimate of the Sibling Recurrence Risk Ratio for Rhegmatogenous Retinal Detachment

Complement Factor H Autoantibodies and Age-Related Macular Degeneration

The Epidemiology and Socioeconomic Associations of Retinal Detachment in Scotland: A Two-Year Prospective Population-Based Study

Developmental and Tissue Expression of Xenopus laevis RPGR

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