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Publications

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

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

Retinal Angiomatous Proliferation in a Patient with Retinitis Pigmentosa.

Kiraly P. et al, (2023), Genes (Basel), 14

New Imaging Technology for Simultaneous Multiwavelength-UWF Fundus Fluorescein Angiography and Indocyanine Green Angiography With Navigated Central and Peripheral SS-OCT

Bravo FJV. et al, (2023), Ophthalmic surgery, lasers & imaging retina, 54, 401 - 410

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation

Kirkby J. et al, (2023), Genes, 14, 1193 - 1193

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).

Nguyen Q. et al, (2023), BMJ Open, 13

INCREASING EVIDENCE FOR THE SAFETY OF FOVEA-INVOLVING HALF-DOSE PHOTODYNAMIC THERAPY FOR CHRONIC CENTRAL SEROUS CHORIORETINOPATHY

Feenstra HMA. et al, (2023), Retina, 43, 379 - 388

Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy

Pearce E. et al, (2023), Vision (Switzerland), 7

Faricimab in neovascular AMD: first report of real-world outcomes in an independent retina clinic

Stanga PE. et al, (2023), Eye (Basingstoke)

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