Publications by authors named "Susan Downes"

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Progressive Retinal Toxicity Nine Years After Hydroxychloroquine Discontinuation: A Case Report.
Christina Karakosta, Susan M Downes

Cureus· December 2025

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Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.
Wendy Wong, Dayyanah Sumodhee, Tiyi Morris, Bhavna Tailor, Catherine Hollyhead, Susan M Downes

Br J Ophthalmol· October 2025

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Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 ().
Grace A Borchert, Rachael C Heath Jeffery, Sian Sperring, Morag Shanks, Jennifer Whitfield, Susan M Downes

Ophthalmic Genet· September 2025

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Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease.
Alexis Ceecee Britten-Jones, Saoud Al-Khuzaei, Matteo Rizzi, Michael D Crossland, Malgorzata B Rozanowska, Susan M Downes

Transl Vis Sci Technol· September 2025

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Genotype-Phenotype Correlations in Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.
Saoud Al-Khuzaei, Mital Shah, Arun Reginald, Edna Baba, Morag Shanks, Susan M Downes

Genes (Basel)· August 2025

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Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations.
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, Malena Daich Varela, Mital Shah, Susan M Downes

medRxiv· July 2025

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Sleep and mood in central serous chorioretinopathy.
Yunfei Yang, Victoria S Foster, Sophie Marlowe, Sarah R Stevenson, Iona Alexander, Susan M Downes

Eye (Lond)· June 2025

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Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.
Nikolas Pontikos, William A Woof, Siying Lin, Biraja Ghoshal, Bernardo S Mendes, Susan M Downes

Nat Mach Intell· June 2025

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Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases.
Gunjan Naik, Saoud Al-Khuzaei, Ismail Moghul, Thales A C de Guimaraes, Sagnik Sen, Susan M Downes

Ophthalmol Sci· June 2025

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Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, , associated with selective cone degeneration.
Grace A Borchert, Morag E Shanks, Jennifer Whitfield, Penny Clouston, Shabnam Raji, Susan M Downes

Ophthalmic Genet· December 2024

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Real-world six-month outcomes in patients switched to faricimab following partial response to anti-VEGF therapy for neovascular age-related macular degeneration and diabetic macular oedema.
Grace A Borchert, Christine A Kiire, Niamh M Stone, Handan Akil, Theodora Gkika, Susan M Downes

Eye (Lond)· December 2024

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Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom.
William A Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, Malena Daich Varela, Sagnik Sen, Susan M Downes

Ophthalmol Sci· November 2024

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The incidence, monitoring coverage and clinical characteristics of hydroxychloroquine retinopathy in the United Kingdom.
Imran H Yusuf, Ruofan C Han, Susan M Downes, Srilakshmi M Sharma

Eye (Lond)· October 2024

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Adaptive optics scanning laser ophthalmoscopy in a heterogenous cohort with Stargardt disease.
Mital Shah, Susan M Downes, Hannah E Smithson, Laura K Young

Sci Rep· October 2024

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Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom.
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, Malena Daich Varela, Sagnik Sen, Susan M Downes

medRxiv· August 2024

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Peripapillary retinal nerve fibre layer thinning in patients with X-linked retinoschisis.
Peter Kiraly, Ana Uršula Gavrić, Felix F Reichel, Johannes Birtel, Luca Mautone, Susan M Downes

BMJ Open Ophthalmol· August 2024

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Central serous chorioretinopathy: An evidence-based treatment guideline.
Helena M A Feenstra, Elon H C van Dijk, Chui Ming Gemmy Cheung, Kyoko Ohno-Matsui, Timothy Y Y Lai, Susan M Downes

Prog Retin Eye Res· July 2024

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Age-related macular degeneration: suitability of optogenetic therapy for geographic atrophy.
Grace A Borchert, Hoda Shamsnajafabadi, Benjamin W J Ng, Kanmin Xue, Samantha R De Silva, Susan M Downes

Front Neurosci· July 2024

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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Susan Downes

Brain· June 2024

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Susan M Downes

Biomolecules· March 2024

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Morphological and functional parameters in X-linked retinoschisis patients-A multicentre retrospective cohort study.
Peter Kiraly, Immanuel P Seitz, Maram E A Abdalla Elsayed, Susan M Downes, Chetan K Patel

Front Med (Lausanne)· January 2024

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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Joohyun Park, Arianna Tucci, Valentina Cipriani, German Demidov, Clarissa Rocca, Susan M Downes

Genet Med· October 2023

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Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic -Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.
Peter Kiraly, Charles L Cottriall, Laura J Taylor, Jasleen K Jolly, Jasmina Cehajic-Kapetanovic, Susan M Downes

Biomolecules· October 2023

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The Role of Inflammation in Age-Related Macular Degeneration-Therapeutic Landscapes in Geographic Atrophy.
Grace A Borchert, Hoda Shamsnajafabadi, Monica L Hu, Samantha R De Silva, Susan M Downes

Cells· August 2023

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Retinal Angiomatous Proliferation in a Patient with Retinitis Pigmentosa.
Peter Kiraly, Susan M Downes, M Dominik Fischer

Genes (Basel)· July 2023

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