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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

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

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

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 June 2017

Complex interaction and Hardy-Weinberg disequilibrium of ABCA4 disease-causing alleles provides insights into the pathogenesis of retinopathy

Ana Fakin; Valentina Cipriani; Stanley Lambertus; Nathalie Bax; Anthony G Robson; Kaoru Fujinami; John Chiang; Anthony T Moore; Michel Michaelides; Graham E Holder; Carel C B Hoyng; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3423. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Electrophysiological Characterization of Macular Telangiectasia Type 2 (MacTel)

Mali Okada; Anthony G Robson; Catherine A Egan; Ferenc Sallo; Simona Degli Esposti; Tjebo FC Heeren; Graham E Holder

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4886. doi: https://doi.org/

Retina November 2016

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients

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Ana Fakin; Anthony G. Robson; John (Pei-Wen) Chiang; Kaoru Fujinami; Anthony T. Moore; Michel Michaelides; Graham E. Holder; Andrew R. Webster
TAGS: alleles, mutation, electroretinography, hemizygosity, severity of illness
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):5963-5973. doi: https://doi.org/10.1167/iovs.16-20446

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Baseline prognostic factors in patients with Birdshot retinochoriopathy( BRC) .

Chrysoula Koutsiouki; Anthony G Robson; Graham E Holder; Angela Rees; Carlos Pavesio; Mark C Westcott

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4122. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

The fundus phenotype associated with the p.Ala243Val BEST1 mutation.

Kamron N Khan; Graham E Holder; Andrew Webster; Anthony G Robson; Anthony T Moore; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):654. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Linear regression analysis of electrodiagnostic parameters against time in patients with Birdshot Retinochoroidopathy (BRC)

elizabeth tsianta; Anthony G Robson; Angela Rees; Graham E Holder; Carlos Pavesio; Mark Westcott

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4503. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Full field ERG responses and fundus autofluorescence of Stargardt patients harboring different non-null ABCA4 alleles in trans with null alleles

Ana Fakin; Anthony G Robson; Michel Michaelides; John (pei wen) Chiang; Anthony T Moore; Graham E Holder; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6589. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Tacrolimus(TAC) In The Treatment Of Birdshot Retinochoroidopathy(BRC): Safety Profile and Efficacy

Farrah Islam; Luke Nicholson; Chysoula Koutsiouki; Mark Westcott; Angela Rees; Anthony G Robson; Carlos Pavesio; Graham E Holder

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5415. doi: https://doi.org/

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: https://doi.org/10.1167/iovs.16-19687

Includes: Supplemental Content

Retina September 2016

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4

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Ana Fakin; Anthony G. Robson; Kaoru Fujinami; Anthony T. Moore; Michel Michaelides; John (Pei-Wen) Chiang; Graham E. Holder; Andrew R. Webster
TAGS: phenotype, mutation, age of onset, electroretinography, retinal degeneration, rna splicing, visual acuity, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):4668-4678. doi: https://doi.org/10.1167/iovs.16-19829

Includes: Supplemental Content

Retina December 2015

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene

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Panagiotis I. Sergouniotis; Martin McKibbin; Anthony G. Robson; Hanno J. Bolz; Elfride De Baere; Philipp L. Müller; Raoul Heller; Mohammed E. El-Asrag; Kristof Van Schil; Vincent Plagnol; Carmel Toomes; UK Inherited Retinal Disease Consortium; Manir Ali; Graham E. Holder; Peter Charbel Issa; Bart P. Leroy; Chris F. Inglehearn; Andrew R. Webster
TAGS: mutation, genes, retinal diseases, autosomal recessive inheritance, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8083-8090. doi: https://doi.org/10.1167/iovs.15-17604

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

Macular Pigment Distribution Profiles: longitudinal stability over 13-17 years and eccentricity-dependent measurement errors.

Anthony G Robson; Jack D Moreland; Daniel Pauleikhoff; Erik J Van Kuijk

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1084. doi: https://doi.org/

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: https://doi.org/

ARVO Annual Meeting Abstract June 2015

The distinct clinical features of adult-onset retinal dystrophy associated with carboxyl mutations in the RPGR-ORF15 gene

Rola Ba-Abbad; Panagiotis Sergouniotis; Anthony T Moore; Michel Michaelides; Graeme C.M. Black; Simon C. Ramsden; Anthony G Robson; Graham E Holder; Vincent Plagnol; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2896. doi: https://doi.org/

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Photoreceptor Structure in GNAT2 -Associated Achromatopsia

Deep Phenotyping of PDE6C -Associated Achromatopsia

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

Deep Phenotyping of PDE6C -Associated Retinopathy

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

Complex interaction and Hardy-Weinberg disequilibrium of ABCA4 disease-causing alleles provides insights into the pathogenesis of retinopathy

Electrophysiological Characterization of Macular Telangiectasia Type 2 (MacTel)

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients

Baseline prognostic factors in patients with Birdshot retinochoriopathy( BRC) .

The fundus phenotype associated with the p.Ala243Val BEST1 mutation.

Linear regression analysis of electrodiagnostic parameters against time in patients with Birdshot Retinochoroidopathy (BRC)

Full field ERG responses and fundus autofluorescence of Stargardt patients harboring different non-null ABCA4 alleles in trans with null alleles

Tacrolimus(TAC) In The Treatment Of Birdshot Retinochoroidopathy(BRC): Safety Profile and Efficacy

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene

Macular Pigment Distribution Profiles: longitudinal stability over 13-17 years and eccentricity-dependent measurement errors.

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

The distinct clinical features of adult-onset retinal dystrophy associated with carboxyl mutations in the RPGR-ORF15 gene

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