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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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

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. doi: https://doi.org/10.1167/iovs.18-26415

Includes: Supplemental Content

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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract July 2019

Investigating the clinical use of adaptive optics scanning laser ophthalmoscopy in patients with Stargardt disease

Mital Shah; Laura K Young; Susan M. Downes; Hannah Smithson

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4580. doi:

Review June 2019

Sleep–Wake Disturbance Related to Ocular Disease: A Systematic Review of Phase-Shifting Pharmaceutical Therapies

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Colm D. Andrews; Russell G. Foster; Iona Alexander; Sridhar Vasudevan; Susan M. Downes; Carl Heneghan; Annette Plüddemann
TAGS: eye diseases, melatonin, pharmacy (field), sleep, systematic reviews, tasimelteon
Trans. Vis. Sci. Tech.. 2019; 8(3):49. doi: https://doi.org/10.1167/tvst.8.3.49

Includes: Supplemental Content

Visual Neuroscience May 2019

Impact of Diabetic Retinopathy on Sleep, Mood, and Quality of Life

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Rupal Morjaria; Iona Alexander; Robert M. J. Purbrick; Rukhsana Safa; Ngaihang Victor Chong; Katharina Wulff; Russell G. Foster; Susan M. Downes; for the SOMNUS Study Group
TAGS: diabetic retinopathy, mood, quality of life, sleep, sleep quality
Invest. Ophthalmol. Vis. Sci.. 2019; 60(6):2304-2310. doi: https://doi.org/10.1167/iovs.18-26108

Retina September 2017

High Symmetry of Visual Acuity and Visual Fields in RPGR -Linked Retinitis Pigmentosa

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Julia-Sophia Bellingrath; G. Alex Ochakovski; Immanuel P. Seitz; Susanne Kohl; Eberhart Zrenner; Nicola Hanig; Holger Prokisch; Bernhard H. Weber; Susan M. Downes; Simon Ramsden; Robert E. MacLaren; M. Dominik Fischer
TAGS: cohort studies, disease progression, electroretinography, eye, mutation, phenotype, retinitis pigmentosa, visual acuity, visual fields, vision
Invest. Ophthalmol. Vis. Sci.. 2017; 58(11):4457-4466. doi: https://doi.org/10.1167/iovs.17-22077

Includes: Supplemental Content

Articles December 2016

A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics

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Jasleen K. Jolly; Siegfried K. Wagner; Jonathan Moules; Florian Gekeler; Andrew R. Webster; Susan M. Downes; Robert E. MacLaren
TAGS: autofluorescence, retinitis pigmentosa, luminance
Trans. Vis. Sci. Tech.. 2016; 5(6):10. doi: https://doi.org/10.1167/tvst.5.6.10

Includes: Supplemental Content

Genetics November 2016

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype

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Matthew P. Simunovic; Jasleen K. Jolly; Kanmin Xue; Thomas L. Edwards; Markus Groppe; Susan M. Downes; Robert E. MacLaren
TAGS: choroideremia, mutation, phenotype
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6033-6039. doi: https://doi.org/10.1167/iovs.16-20230

Retina August 2016

A Qualitative and Quantitative Assessment of Fundus Autofluorescence Patterns in Patients With Choroideremia

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Jasleen K. Jolly; Thomas L. Edwards; Jonathan Moules; Markus Groppe; Susan M. Downes; Robert E. MacLaren
TAGS: autofluorescence, choroideremia, eye, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2016; 57(10):4498-4503. doi: https://doi.org/10.1167/iovs.15-18362

Includes: Supplemental Content

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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

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

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

Genotype-phenotype correlation of novel variants in ABCA4

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

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

Retinitis pigmentosa caused by variants in SNRNP200

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

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

Genotype-Phenotype Analysis of Three Novel NR2E3 Mutations

Investigating the clinical use of adaptive optics scanning laser ophthalmoscopy in patients with Stargardt disease

Sleep–Wake Disturbance Related to Ocular Disease: A Systematic Review of Phase-Shifting Pharmaceutical Therapies

Impact of Diabetic Retinopathy on Sleep, Mood, and Quality of Life

High Symmetry of Visual Acuity and Visual Fields in RPGR -Linked Retinitis Pigmentosa

A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype

A Qualitative and Quantitative Assessment of Fundus Autofluorescence Patterns in Patients With Choroideremia

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