Contact information
Susan Downes
MD, FRCOphth
Professor of Ophthalmology
- Consultant Ophthalmic Surgeon
- Senior Research Fellow
- Honorary Clinical Senior Lecturer in Ophthalmology
Susan Downes is the Clinical Network Lead for Ophthalmology research in the Thames Valley and Clinical research Lead for Ophthalmology in the new Sleep and Circadian Neuroscience Institute (SCNi).
Research
Susie researches inherited retinal degeneration and phenotype genotype correlation as well as treatment of age related macular degeneration and central serous chorioretinopathy and sleep studies in ocular disease, She has collaborative links worldwide in these fields with research and training.
Recent publications
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Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration.
Journal article
Borchert GA. et al, (2024), Ophthalmic Genet, 1 - 7
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Peripapillary retinal nerve fibre layer thinning in patients with X-linked retinoschisis.
Journal article
Kiraly P. et al, (2024), BMJ Open Ophthalmol, 9
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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
Journal article
Smith CEL. et al, (2024), Journal of Medical Genetics, 61, 689 - 698
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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Journal article
Liu J. et al, (2024), Brain, 147, 2085 - 2097
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Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom.
Preprint
Woof W. et al, (2024)