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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The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
Journal article
Black GC. et al, (2021), Orphanet Journal of Rare Diseases, 16
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Bilateral paracentral acute middle maculopathy in a SARS-CoV-2-positive patient.
Journal article
Naughton A. et al, (2021), Postgrad Med J
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Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
Journal article
Al-Khuzaei S. et al, (2021), BMC Ophthalmol, 21
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New variants and in silico analyses in GRK1 associated Oguchi disease
Journal article
Poulter JA. et al, (2021), Human Mutation, 42, 164 - 176
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Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
Journal article
Downes SM. et al, (2020), Genes (Basel), 11