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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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
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The effect of congenital and acquired bilateral anophthalmia on brain structure
Journal article
BRIDGE H. et al, (2020), Neuro-Ophthalmology
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Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients
Journal article
Al-khuzaei S. et al, (2020), Genes, 11, 1288 - 1288
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Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
Journal article
Kuehlewein L. et al, (2020), JAMA Ophthalmol
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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Journal article
de Bruijn SE. et al, (2020), Am J Hum Genet