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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

Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness

Philipp Mueller; Tim Treis; Maximilian Pfau; Simona Degli Esposti; Abdulrahman Alsaedi; Peter Maloca; Konstantinos Balaskas; Andrew Webster; Catherine A Egan; Adnan Tufail

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1057. doi:

ARVO Annual Meeting Abstract June 2020

The clinical and genetic characteristics of patients with biallelic RLBP1 -mediated retinopathy

Emma Sara Duignan; Anthony G Robson; Elena Schiff; Genevieve Wright; Hannah Knight; Michel Michaelides; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1952. doi:

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

Exploring rod system dysfunction in patients with CRX -associated retinopathy

Rola Ba-Abbad; Shaun Leo; Xiaofan Jiang; Isabelle Chow; Mathura Indusegaran; Christopher Hammond; Michel Michaelides; Andrew R. Webster; Anthony G Robson; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3989. 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:

ARVO Annual Meeting Abstract June 2020

Tracking Slowed Dark Adaptation Dynamically in Vitamin A deficiency and retinal disease by electroretinogram

Xiaofan Jiang; Shaun Leo; Isabelle Chow; Mathura Indusegaran; Anthony G Robson; Andrew R. Webster; Christopher Hammond; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5053. doi:

ARVO Annual Meeting Abstract June 2020

Comparison of white light and scanning laser ophthalmoscopy ultra-widefield pseudocolor reflectance images in foveal hypoplasia

Simona Degli Esposti; Mohamed Rashad; Matt Robertson; Vivi Riga; Navjit Singh; Mariya Moosajee; Michel Michaelides; Andrew R. Webster; Omar A Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5304. doi:

Articles May 2020

Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration

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Kamron N. Khan; Shyamanga Borooah; Leonardo Lando; Kunny Dans; Omar A. Mahroo; Amit Meshi; Angelos Kalitzeos; Georgios Agorogiannis; Sasan Moghimi; William R. Freeman; Andrew R. Webster; Anthony T. Moore; Martin McKibbin; Michel Michaelides
TAGS: bruch's basal membrane, macular degeneration, optical coherence tomography, retinal pigment epithelium, spectral domain-optical coherence tomography, eye, drusen
Trans. Vis. Sci. Tech.. 2020; 9(6):26. doi: https://doi.org/10.1167/tvst.9.6.26

Includes: Supplemental Content

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

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

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:

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:

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:

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:

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:

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:

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:

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

Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness

The clinical and genetic characteristics of patients with biallelic RLBP1 -mediated retinopathy

Ceramide synthase TLCD3B as a novel gene associated with human recessive cone-rod dystrophy and maculopathy

Exploring rod system dysfunction in patients with CRX -associated retinopathy

Diminished light adaptation effect seen in cone-driven responses in GRK1 -associated Oguchi disease: evidence for possible rod input to cone adaptation pathways

Tracking Slowed Dark Adaptation Dynamically in Vitamin A deficiency and retinal disease by electroretinogram

Comparison of white light and scanning laser ophthalmoscopy ultra-widefield pseudocolor reflectance images in foveal hypoplasia

Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration

Photoreceptor Structure in GNAT2 -Associated Achromatopsia

Deep Phenotyping of PDE6C -Associated Achromatopsia

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

Deep Phenotyping of PDE6C -Associated Retinopathy

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

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

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.

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

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