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Retina March 2020

Photoreceptor Structure in GNAT2 -Associated Achromatopsia

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Michalis Georgiou; Navjit Singh; Thomas Kane; Anthony G. Robson; Angelos Kalitzeos; Nashila Hirji; Andrew R. Webster; Alfredo Dubra; Joseph Carroll; Michel Michaelides
TAGS: achromatopsia, diagnostic imaging, mosaicism, phenotype determination, photoreceptors, retinal cone, eye, color vision, spectral-domain optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2020; 61(3):40. doi: https://doi.org/10.1167/iovs.61.3.40

Includes: Supplemental Content

Genetics December 2019

Deep Phenotyping of PDE6C -Associated Achromatopsia

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Michalis Georgiou; Anthony G. Robson; Navjit Singh; Nikolas Pontikos; Thomas Kane; Nashila Hirji; Caterina Ripamonti; Tryfon Rotsos; Alfredo Dubra; Angelos Kalitzeos; Andrew R. Webster; Joseph Carroll; Michel Michaelides
TAGS: achromatopsia, diagnostic imaging, electroretinography, eye, fundus autofluorescence imaging, mosaicism, phenotype determination, retinal cone, spectral-domain optical coherence tomography, pathologic nystagmus
Invest. Ophthalmol. Vis. Sci.. 2019; 60(15):5112-5123. doi: https://doi.org/10.1167/iovs.19-27761

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

Yuri V Sergeev; Kaoru Fujinami; Benedetto Falsini; Wadih M Zein; Kerry Goetz; Yu Yokokawa Fujinami; Se Joon Woo; Shiying Li; Matteo Bertelli; Winston Lee; Jana Zernant; Rando Allikmets; Andrew Webster; Michel Michaelides; Brian Patrick Brooks; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3872. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Age-related changes in ERG and genotype-phenotype comparison in patients with achromatopsia.

Anthony G Robson; Shaheeni Khoda; Selma Lewis; Magella Neveu; Antonio Calcagni; Andrew Webster; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4514. 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

Light adaptation of the photopic electroretinogram in healthy subjects, and in patients with diseases affecting ganglion cells, the retinal pigment epithelium and the rod system

ZIHE XU; Xiaofan Jiang; Isabelle Chow; Mathura Indusegaran; Zainab Saleem; Gordon T Plant; Andrew Webster; Christopher J Hammond; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2501. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Variable nonsense mediated decay in choroideremia patients points to a prognostic indicator for nonsense suppression therapy

Mariya Moosajee; Andreas Mitsios; Vasiliki Kalatzis; Peter J Coffey; Adam M Dubis; Andrew Webster; Hajrah Sarkar

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3249. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Longitudinal phenotypic comparison of syndromic and non-syndromic RP in USH2A -associated retinopathy

Adam M Dubis; Yun Lin Ang; Andreas Mitsios; Jasdeep Gill; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5172. doi: https://doi.org/

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

Deep Phenotyping of PDE6C -Associated Retinopathy

Michalis Georgiou; Anthony G Robson; Nashila Hirji; Navjit Singh; Thomas Kane; Alfredo Dubra; Joseph Carroll; Andrew Webster; Angelos Kalitzeos; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5167. 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

Leber Congenital Amaurosis associated with GUCY2D variants: A Retrospective Natural History Study in preparation for future Therapies.

ZAINA Ibrahim BOUZIA; Michalis Georgiou; Sarah Hull; Anthony G Robson; Andrew Webster; Alison J Hardcastle; Alessia Fiorentino; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5421. 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

Rapid non-mydriatic assessment of panretinal cone system function using a hand-held electroretinography device in ABCA4 retinopathy

diana-maria butu; Ana Fakin; Talha Soorma; April Q Neville; Christopher J Hammond; Michel Michaelides; Andrew Webster; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5952. 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, genetic pedigree, retinal diseases, signs and symptoms
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

Retinal Gene Therapy for Choroideremia in a Multicenter Dose Escalation Phase I/II Clinical Trial

Robert E MacLaren; Kanmin Xue; Alun R Barnard; Maria In?s Patrício; Thomas L Edwards; Susan Downes; Andrew Lotery; Graeme Black; Andrew Webster; Jasleen K Jolly; Miguel C Seabra

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1195. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Longitudinal phenotypic characterization of type II Usher syndrome caused by mutations in USH2A

Adam M Dubis; Andreas Mitsios; Maria Toms; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1564. 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

Whole metabolomic profiling determines systemic dysfunction in Choroideremia

Mariya Moosajee; Rose Richardson; Andreas Mitsios; Alessandro Abbouda; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4492. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Homeostatic Role for GPR158 in Modulating Intraocular Pressure (IOP)

Tatsuo Itakura; Andrew Webster; Jose M Gonzalez; James C H Tan; Maria Sibug-Saber; Cheryl Mae Craft; Janice A Vranka; Ted S Acott; W Daniel Stamer; Kirill A Martemyanov; M Elizabeth Fini

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4724. doi: https://doi.org/

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Photoreceptor Structure in GNAT2 -Associated Achromatopsia

Deep Phenotyping of PDE6C -Associated Achromatopsia

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

Age-related changes in ERG and genotype-phenotype comparison in patients with achromatopsia.

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

Light adaptation of the photopic electroretinogram in healthy subjects, and in patients with diseases affecting ganglion cells, the retinal pigment epithelium and the rod system

Variable nonsense mediated decay in choroideremia patients points to a prognostic indicator for nonsense suppression therapy

Longitudinal phenotypic comparison of syndromic and non-syndromic RP in USH2A -associated retinopathy

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

Deep Phenotyping of PDE6C -Associated Retinopathy

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

Leber Congenital Amaurosis associated with GUCY2D variants: A Retrospective Natural History Study in preparation for future Therapies.

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

Rapid non-mydriatic assessment of panretinal cone system function using a hand-held electroretinography device in ABCA4 retinopathy

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

Retinal Gene Therapy for Choroideremia in a Multicenter Dose Escalation Phase I/II Clinical Trial

Longitudinal phenotypic characterization of type II Usher syndrome caused by mutations in USH2A

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

Whole metabolomic profiling determines systemic dysfunction in Choroideremia

Homeostatic Role for GPR158 in Modulating Intraocular Pressure (IOP)

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