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ARVO Annual Meeting Abstract June 2024

A Comprehensive Bioinformatics Pipeline for Analysing Whole-Genome Sequencing Data of Patients with Inherited Retinal Degenerations

Ahmed Shalaby; Samantha R De Silva; Stephanie Halford; Jing Yu; Matteo Ferla; Susan M Downes

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3169.

ARVO Annual Meeting Abstract June 2024

Health Literacy in Patients living with Age-Related Macular Degeneration (UK cohort baseline)

Stephanie Campbell; Sally von Hofsten; Pranay Dhokia; Susan M Downes; Alexander Foss

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5695.

ARVO Annual Meeting Abstract June 2024

Prevalence of Charles Bonnet Syndrome(CBS) in patients with vitreoretinal and inherited retinal disease

Mayuresh Naik; Yasmin Bakr; Ariel Yuhan Ong; Betina Ip; Susan M Downes; Peter Charbel Issa; Sher Aslam; Jasleen K Jolly

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1827.

ARVO Annual Meeting Abstract June 2024

Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration

Grace A Borchert; Morag Shanks; Jennifer Whitfield; Penny Clouston; Shabnam Raji; Sian Sperring; Kanmin Xue; Samantha R De Silva; Susan M Downes; Robert E MacLaren; Jasmina Cehajic Kapetanovic

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4687.

ARVO Annual Meeting Abstract June 2023

Finding the Second Variant: a Purpose-built Bioinformatics Pipeline

Ahmed Shalaby; Samantha R De Silva; Jing Yu; Stephanie Halford; Susan M Downes

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4503.

ARVO Annual Meeting Abstract June 2023

First-in-human simultaneous multiwavelength ultra-widefield (MW-UWF) fundus fluorescein (FFA) and indocyanine green (ICG) angiography with navigated central and peripheral swept-source optical coherence tomography (SS-OCT) imaging

Francisco Javier Javier Valentín Bravo; William Ayliffe; Sebastian Eduardo Francis Stanga; Ursula Inge Reinstein; Rob Moxham; Zeb Tariq; Susan M Downes; Paulo-Eduardo Stanga

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1036.

ARVO Annual Meeting Abstract June 2023

Functional outcomes and adverse effects of voretigene neparvovec for biallelic RPE65-mediated inherited retinal dystrophies in a cohort of patients from a single centre

Peter Kiraly; Charles Cottriall; Laura J Taylor; Jasleen K Jolly; Jasmina Cehajic-Kapetanovic; Imran H Yusuf; Cristina Martinez-Fernandez dela Camara; Morag Shanks; Susan M Downes; Robert E MacLaren; Dominik M Fischer

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):801.

ARVO Annual Meeting Abstract June 2022

Safety and efficacy of fovea-involving half-dose photodynamic therapy for chronic central serous chorioretinopathy

Helena Margaret Anthonia Feenstra; Roselie M.H. Diederen; Martine J.C.M. Lamme; Sascha Fauser; Susan M. Downes; Reinier O. Schlingemann; Carel C B Hoyng; Elon H.C. van Dijk; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):37.

ARVO Annual Meeting Abstract June 2022

Phenotypic appearances in a large ethnically diverse cohort of 178 patients with ABCA4 retinopathy

Saoud Al-khuzaei; Mital Shah; Suzanne Broadgate; Jing Yu; Charlotte R Foster; Jasleen Kaur Jolly; Morag Shanks; Robert E MacLaren; Peter Charbel Issa; Penny Clouston; Stephanie Halford; Susan M. Downes

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):616 – A0331.

ARVO Annual Meeting Abstract June 2022

Spontaneous resolution of subretinal fluid in chronic central serous chorioretinopathy: the Fuji sign

Camiel J F Boon; Helena Margaret Anthonia Feenstra; Jonathan Hensman; Theodora Gkika; Carel C B Hoyng; Roselie M.H. Diederen; Reinier O. Schlingemann; Susan M. Downes; Elon H.C. van Dijk

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3763 – F0184.

ARVO Annual Meeting Abstract June 2022

Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using AI

NIKOLAS PONTIKOS; William Woof; Peter Krawitz; Gavin Arno; Kristina Hess; Malena Daich Varela; Bart Liefers; Thales Guimaraes; Mital Shah; Savita Madhusudhan; Susan M. Downes; Konstantinos Balaskas; Omar Abdul Rahman Mahroo; Frank G Holz; Michel Michaelides; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1161.

ARVO Annual Meeting Abstract June 2021

Genotype-phenotype correlation of novel variants in ABCA4

Saoud Al-khuzaei; Charlotte Foster; Suzanne Broadgate; Mital shah; Morag Shanks; Robert E MacLaren; Peter Charbel Issa; Penny Clouston; Stephanie Halford; Susan M Downes

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1545.

ARVO Annual Meeting Abstract June 2021

Clinical and genetic spectrum of patients with GUCY2D -associated retinal dystrophies

Leo Hahn; Mary J. van Schooneveld; Michalis Georgiou; Magda Meester-Smoor; Andrew J Lotery; Maria M. van Genderen; Jeannette Ossewaarde-van Norel; L. Ingeborgh van den Born; Carel Hoyng; Caroline C. W. Klaver; Susan M Downes; Martin McKibbin; Arthur A.B. Bergen; Bart Leroy; Michel Michaelides; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1544.

ARVO Annual Meeting Abstract June 2021

Widespread Thinning of Human Primary Visual Cortex Following Focal Loss of Photoreceptors

Jasleen Kaur Jolly; Bradley Caron; Aislin A Sheldon; Daniel Bullock; Susan M Downes; Franco Pestilli; Robert E MacLaren; Holly Bridge

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3138.

Retina August 2019

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping

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Peter Charbel Issa; Martin Gliem; Imran H. Yusuf; Johannes Birtel; Philipp L. Müller; Elisabeth Mangold; Susan M. Downes; Robert E. MacLaren; Christian Betz; Hanno J. Bolz
TAGS: exons, macula densa, macula lutea, mutation, phenotype, retinal diseases, silent mutations, homozygote
Invest. Ophthalmol. Vis. Sci.. 2019; 60(10):3388-3397. https://doi.org/10.1167/iovs.18-26415

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Face perception - can it be improved in age-related macular degeneration and Stargardt disease?

Iain R Wilson; Stephen Lloyd Hicks; Susan M. Downes; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1061.

ARVO Annual Meeting Abstract July 2019

Changes on multimodal imaging after treatment with photodynamic therapy or high-density subthreshold micropulse laser in chronic central serous chorioretinopathy

Thomas Jurian van Rijssen; Leo C Hahn; Elon Van Dijk; Paula Scholz; Myrte Breukink; Eric H Souied; Robert E MacLaren; Giuseppe Querques; Sascha Fauser; Susan M. Downes; Carel C B Hoyng; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1155.

ARVO Annual Meeting Abstract July 2019

Retinitis pigmentosa caused by variants in SNRNP200

Imran H Yusuf; Johannes Birtel; Morag Shanks; Penny Clouston; Susan M. Downes; Peter Charbel Issa; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4519.

ARVO Annual Meeting Abstract July 2019

Improved diagnosis of retinal laser injuries using near-infrared autofluorescence imaging

Samantha R De Silva; James E Neffendorf; Johannes Birtel; Philipp Herrmann; Susan M. Downes; Chetan K Patel; Darius Hildebrand; Martin Gliem; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1561.

ARVO Annual Meeting Abstract July 2019

Genotype-Phenotype Analysis of Three Novel NR2E3 Mutations

Saoud A Al-khuzaei; Stephanie Halford; Penny Clouston; Robert E MacLaren; Susan M. Downes

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2933.

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A Comprehensive Bioinformatics Pipeline for Analysing Whole-Genome Sequencing Data of Patients with Inherited Retinal Degenerations

Health Literacy in Patients living with Age-Related Macular Degeneration (UK cohort baseline)

Prevalence of Charles Bonnet Syndrome(CBS) in patients with vitreoretinal and inherited retinal disease

Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration

Finding the Second Variant: a Purpose-built Bioinformatics Pipeline

First-in-human simultaneous multiwavelength ultra-widefield (MW-UWF) fundus fluorescein (FFA) and indocyanine green (ICG) angiography with navigated central and peripheral swept-source optical coherence tomography (SS-OCT) imaging

Functional outcomes and adverse effects of voretigene neparvovec for biallelic RPE65-mediated inherited retinal dystrophies in a cohort of patients from a single centre

Safety and efficacy of fovea-involving half-dose photodynamic therapy for chronic central serous chorioretinopathy

Phenotypic appearances in a large ethnically diverse cohort of 178 patients with ABCA4 retinopathy

Spontaneous resolution of subretinal fluid in chronic central serous chorioretinopathy: the Fuji sign

Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using AI

Genotype-phenotype correlation of novel variants in ABCA4

Clinical and genetic spectrum of patients with GUCY2D -associated retinal dystrophies

Widespread Thinning of Human Primary Visual Cortex Following Focal Loss of Photoreceptors

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping

Face perception - can it be improved in age-related macular degeneration and Stargardt disease?

Changes on multimodal imaging after treatment with photodynamic therapy or high-density subthreshold micropulse laser in chronic central serous chorioretinopathy

Retinitis pigmentosa caused by variants in SNRNP200

Improved diagnosis of retinal laser injuries using near-infrared autofluorescence imaging

Genotype-Phenotype Analysis of Three Novel NR2E3 Mutations

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