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Publications

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

Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.

Thomas-Black G. et al, (2022), Mov Disord

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.

Chrystal PW. et al, (2022), Nat Commun, 13

A nationwide survey of hydroxychloroquine retinopathy presenting to the hospital eye service in the United Kingdom

YUSUF I. et al, (2022), Eye

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

Feenstra HM. et al, (2022), Genes, 13, 1423 - 1423

EFFICACY OF HALF-DOSE PHOTODYNAMIC THERAPY VERSUS HIGH-DENSITY SUBTHRESHOLD MICROPULSE LASER FOR TREATING PIGMENT EPITHELIAL DETACHMENTS IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY

Feenstra HMA. et al, (2022), Retina, 42, 721 - 729

Long term retinal morphology and functional associations in treated neovascular age-related macular degeneration: findings from the IVAN trial.

Peto T. et al, (2022), Ophthalmol Retina

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.

Hahn LC. et al, (2022), Ophthalmol Retina

Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

Yahya S. et al, (2022), Ophthalmology

Rapid Quantification of the Binocular Visual Field for Clinical Trials: Performance of a Modified Esterman Supra-Threshold Test Implemented with the Open Perimetry Interface.

Andrews CD. et al, (2022), Clin Ophthalmol, 16, 1513 - 1523

Spontaneous Resolution of Chronic Central Serous Chorioretinopathy: “Fuji Sign”

Feenstra HMA. et al, (2022), Ophthalmology Retina

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

Black GC. et al, (2021), Orphanet Journal of Rare Diseases, 16

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.

Patel CK. et al, (2021), Ophthalmic Genet, 1 - 9

SVRare: discovering disease-causing structural variants in the 100K Genomes Project

Yu J. et al, (2021)

RESPONSE OF CHOROIDAL ABNORMALITIES TO PHOTODYNAMIC THERAPY VERSUS MICROPULSE LASER IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY: Place Trial Report No. 4.

van Rijssen TJ. et al, (2021), Retina, 41, 2122 - 2131

An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story

Al-Khuzaei S. et al, (2021), Genes, 12, 1241 - 1241

Bilateral paracentral acute middle maculopathy in a SARS-CoV-2-positive patient.

Naughton A. et al, (2021), Postgrad Med J

Genotype-phenotype correlation of novel variants in ABCA4

Al-khuzaei S. et al, (2021), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 62

Widespread Thinning of Human Primary Visual Cortex Following Focal Loss of Photoreceptors

Jolly JK. et al, (2021), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 62

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