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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: 10.1167/iovs.18-26415

Includes: Supplemental Content

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:

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

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:

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: 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: 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: phenotype, mutation, blindness, cohort studies, retinal cone, disease progression, electroretinography, perimetry, retinitis pigmentosa, rod photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2017; 58(11):4457-4466. doi: 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: retinitis pigmentosa, autofluorescence, luminance
Trans. Vis. Sci. Tech.. 2016; 5(6):10. doi: 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: phenotype, mutation, choroideremia
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6033-6039. doi: 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: choroideremia, eye, autofluorescence, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2016; 57(10):4498-4503. doi: 10.1167/iovs.15-18362

Includes: Supplemental Content

Retina July 2016

Correlation of Optical Coherence Tomography and Autofluorescence in the Outer Retina and Choroid of Patients With Choroideremia

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Kanmin Xue; Marta Oldani; Jasleen K. Jolly; Thomas L. Edwards; Markus Groppe; Susan M. Downes; Robert E. MacLaren
TAGS: choroideremia, choroid, retina, optical coherence tomography, autofluorescence, tissue degeneration
Invest. Ophthalmol. Vis. Sci.. 2016; 57(8):3674-3684. doi: 10.1167/iovs.15-18364

Includes: Supplemental Content

Low Vision July 2015

Improving Mobility Performance in Low Vision With a Distance-Based Representation of the Visual Scene

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Joram J. van Rheede; Iain R. Wilson; Rose I. Qian; Susan M. Downes; Christopher Kennard; Stephen L. Hicks
TAGS: visual impairment, mobility
Invest. Ophthalmol. Vis. Sci.. 2015; 56(8):4802-4809. doi: 10.1167/iovs.14-16311

Includes: Supplemental Content

Visual Neuroscience August 2014

Impact of Cataract Surgery on Sleep in Patients Receiving Either Ultraviolet-Blocking or Blue-Filtering Intraocular Lens Implants

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Iona Alexander; Fiona M. Cuthbertson; Gokulan Ratnarajan; Rukhsana Safa; Faye E. Mellington; Russell G. Foster; Susan M. Downes; Katharina Wulff
TAGS: cataract, cataract surgery, intraocular lens implant device, sleep, ultraviolet b radiation, quality, implants
Invest. Ophthalmol. Vis. Sci.. 2014; 55(8):4999-5004. doi: 10.1167/iovs.14-14054

ARVO Annual Meeting Abstract April 2014

Improved visual function in patients with choroideremia undergoing subretinal gene therapy

Robert E MacLaren; Markus Groppe; Alun R Barnard; Tanya Tolmachova; Frans P Cremers; Graeme C Black; Andrew Lotery; Susan M Downes; Andrew Webster; Miguel C Seabra; Choroideremia Gene Therapy Study Group

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):832. doi:

ARVO Annual Meeting Abstract April 2014

Alterations in serum vascular endothelial growth factor after intraocular administration of antiVEGF drugs, is there an association with safety outcomes?

Usha Chakravarthy; Chris Rogers; Barney Reeves; Lauren Scott; Simon P Harding; Susan M Downes; Andrew Lotery; IVAN study Group

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):871. doi:

ARVO Annual Meeting Abstract April 2014

Analysis of REP1 protein expression in blood leukocytes in typical choroideremia patients without an identifiable REP1 gene mutation

Camiel J F Boon; Tanya Tolmachova; Alun R Barnard; Susan M Downes; Markus Groppe; Andrew Webster; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3298. doi:

ARVO Annual Meeting Abstract April 2014

Sleep Quality in Age-Related Macular Degeneration (AMD)

Robert Malcolm John Purbrick; Jovi C Wong; Rukhsana Safa; Iona Alexander; Rupal Morjaria; Katharina Wulff; Russell G Foster; Susan M Downes

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3494. doi:

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

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

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

Retinitis pigmentosa caused by variants in SNRNP200

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

Correlation of Optical Coherence Tomography and Autofluorescence in the Outer Retina and Choroid of Patients With Choroideremia

Improving Mobility Performance in Low Vision With a Distance-Based Representation of the Visual Scene

Impact of Cataract Surgery on Sleep in Patients Receiving Either Ultraviolet-Blocking or Blue-Filtering Intraocular Lens Implants

Improved visual function in patients with choroideremia undergoing subretinal gene therapy

Alterations in serum vascular endothelial growth factor after intraocular administration of antiVEGF drugs, is there an association with safety outcomes?

Analysis of REP1 protein expression in blood leukocytes in typical choroideremia patients without an identifiable REP1 gene mutation

Sleep Quality in Age-Related Macular Degeneration (AMD)

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