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Publications

Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.

Wong W. et al, (2025), Br J Ophthalmol

Sleep and mood in central serous chorioretinopathy.

Yang Y. et al, (2025), Eye (Lond)

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.

Pontikos N. et al, (2025), Nat Mach Intell, 7, 967 - 978

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom.

Woof WA. et al, (2025), Ophthalmol Sci, 5

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.

Borchert GA. et al, (2024), Eye (Lond)

Adaptive optics scanning laser ophthalmoscopy in a heterogenous cohort with Stargardt disease.

Shah M. et al, (2024), Sci Rep, 14

Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration.

Borchert GA. et al, (2024), Ophthalmic Genet, 1 - 7

Peripapillary retinal nerve fibre layer thinning in patients with X-linked retinoschisis.

Kiraly P. et al, (2024), BMJ Open Ophthalmol, 9

The UK clinical eye research strategy: refreshing research priorities for clinical eye research in the UK.

Bourne RRA. et al, (2024), Eye (Lond), 38, 1947 - 1957

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

Smith CEL. et al, (2024), Journal of Medical Genetics, 61, 689 - 698

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

Liu J. et al, (2024), Brain, 147, 2085 - 2097

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom.

Woof W. et al, (2024)

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

Hitti-Malin RJ. et al, (2024), Biomolecules, 14, 367 - 367

Central serous chorioretinopathy: An evidence-based treatment guideline.

Feenstra HMA. et al, (2024), Prog Retin Eye Res, 101

Age-related macular degeneration: suitability of optogenetic therapy for geographic atrophy.

Borchert GA. et al, (2024), Front Neurosci, 18

The incidence, monitoring coverage and clinical characteristics of hydroxychloroquine retinopathy in the United Kingdom

Yusuf IH. et al, (2024), Eye (Basingstoke)

Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.

Kiraly P. et al, (2023), Biomolecules, 13

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Park J. et al, (2023), Genet Med

The Role of Inflammation in Age-Related Macular Degeneration-Therapeutic Landscapes in Geographic Atrophy.

Borchert GA. et al, (2023), Cells, 12

Combined central serous chorioretinopathy, hypermetropia, short axial length, chorioretinal folds, enlarged/thickened ocular coats, with varying association of scleral changes (CHAFES).

Downes SM. et al, (2023), BMC Ophthalmol, 23

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