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Glaucoma July 2025

Decoding the Cornea-Glaucoma Association: Evidence From Mendelian Randomization

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Victor A. de Vries; Anita Szabo; Joëlle E. Vergroesen; Siyin Liu; Karin A. van Garderen; Kirithika Muthusamy; Petra Liskova; Lubica Dudakova; Anthony P. Khawaja; Stephen J. Tuft; Caroline C. W. Klaver; Alice E. Davidson; Wishal D. Ramdas
TAGS: cardiac ct, cohort studies, cornea, glaucoma, mendelian randomization analysis, genetic risk score, intraocular pressure
Invest. Ophthalmol. Vis. Sci.. 2025; 66(9):22. https://doi.org/10.1167/iovs.66.9.22

Includes: Supplemental Content

Review June 2025

Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review

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Siyin Liu; Lynn Kandakji; Aleksander Stupnicki; Dayyanah Sumodhee; Marcello T. Leucci; Scott Hau; Shafi Balal; Arthur Okonkwo; Ismail Moghul; Sandor P. Kanda; Bruce D. Allan; Dan M. Gore; Kirithika Muthusamy; Alison J. Hardcastle; Alice E. Davidson; Petra Liskova; Nikolas Pontikos
TAGS: artificial intelligence, cornea, corneal edema, corneal endothelium, datasets, diagnostic imaging, endothelium, eye, hereditary corneal dystrophy, systematic reviews
Trans. Vis. Sci. Tech.. 2025; 14(6):12. https://doi.org/10.1167/tvst.14.6.12

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

A novel autosomal dominant Corneal Stromal Dystrophy associated with a SPARCL1 missense variant

Freddie L Braddock; Beatriz Sanchez Pintado; Anita Szabo; Nihar Bhattacharyya; Samanta Mitchell; Caroline Thaung; Jessica C Gardner; Alice E Davidson; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2167.

ARVO Annual Meeting Abstract June 2023

Prevalence of posterior polymorphous corneal dystrophy type 3 in the Czech population

Petra Liskova; Jana Jedlickova; Alice E Davidson; Nathaniel J. Hafford-Tear; Lubica Dudakova; Pavlina Skalicka

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):616.

ARVO Annual Meeting Abstract June 2023

Mendelian Randomization analyses identify environmental factors that influence keratoconus risk

Pirro G Hysi; Alice E Davidson; Petra Liskova; Paul N Baird; Kathryn P Burdon; Christopher J Hammond; Alison J Hardcastle; Stephen J Tuft

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1178.

ARVO Annual Meeting Abstract June 2023

Genome Sequencing of a Familial Keratoconus Cohort

Freddie Louis Braddock; Anita Szabo; Nikolas Pontikos; Pirro G Hysi; Stephen J Tuft; Alice E Davidson; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4357.

ARVO Annual Meeting Abstract June 2022

A refined amplification-free long-read sequencing method to interrogate TCF4 triplet repeats associated with Fuchs endothelial corneal dystrophy

Christina Zarouchlioti; Nathaniel Jordan Hafford-Tear; Yu-Chih Tsai; Anita Szabo; Nihar Bhattacharyya; Amanda Sadan; Alison J Hardcastle; Petra Liskova; Nikolas Pontikos; Stephen Tuft; Alice E Davidson

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2.

ARVO Annual Meeting Abstract June 2022

In vitro modelling of autosomal dominant TGFBI corneal dystrophies and development of a targeted therapeutic approach

Olivia Farah Rezek; Beatriz Sanchez-Pintado; Michael E Cheetham; Alice E Davidson; Stephen Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3844.

ARVO Annual Meeting Abstract June 2022

CTG18.1-mediated Fuchs endothelial corneal dystrophy: characterizing biomarkers of pathogenicity in patients with rare intermediate triplet repeat expansions

Nihar Bhattacharyya; Amanda Sadan; Christina Zarouchlioti; Nathaniel Jordan Hafford-Tear; Kirithika Muthusamy; Alison J Hardcastle; Pavlina Skalicka; Petra Liskova; Stephen Tuft; Alice E Davidson

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1588 – A0377.

ARVO Annual Meeting Abstract June 2021

CTG18.1-mediated Fuchs Endothelial Corneal Dystrophy: defining unique signatures of transcriptomic dysregulation

Nihar Bhattacharyya; Nathaniel Hafford-Tear; Amanda N Sadan; Christina Zarouchlioti; Kirithika Muthusamy; Petra Liskova; Stephen J Tuft; Alison J Hardcastle; Alice E Davidson

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1454.

ARVO Annual Meeting Abstract June 2021

Investigation of transcriptional dysregulation events driving Posterior Polymorphous Corneal Dystrophy type 1

Nathaniel Hafford-Tear; Lubica Dudakova; Stephen J Tuft; Amanda N Sadan; Nihar Bhattacharyya; Christina Zarouchlioti; Alison J Hardcastle; Petra Liskova; Alice E Davidson

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1450.

ARVO Annual Meeting Abstract July 2019

Development of patient-derived iPSC disease models of TGFBI corneal dystrophies

Beatriz Sanchez; Alice E Davidson; Kirithika Muthusamy; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4151.

ARVO Annual Meeting Abstract July 2019

Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

Alison J Hardcastle; Pirro G Hysi; Karla Rojas-Lopez; Petra Liskova; Alice E Davidson; Manir Ali; Kathryn P Burdon; David O'Brart; Chris Inglehearn; Paul N Baird; Christopher J Hammond; Stephen J Tuft

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4249.

ARVO Annual Meeting Abstract July 2019

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat

Alice E Davidson; Nathaniel J Hafford Tear; Yu-Chih Tsai; Amanda Sadan; Beatriz Sanchez-Pintado; Christina Zarouchlioti; Petra Liskova; Stephen J Tuft; Tyson A Clark; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6055.

Genetics July 2019

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

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Kristyna Brejchova; Lubica Dudakova; Pavlina Skalicka; Robert Dobrovolny; Petr Masek; Martina Putzova; Mariya Moosajee; Stephen J. Tuft; Alice E. Davidson; Petra Liskova
TAGS: biological models, cornea, endothelium, heterogeneous nuclear rna, rna splicing, proband, mutation
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):3084-3090. https://doi.org/10.1167/iovs.19-26930

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Relationship of severity of Fuchs endothelial corneal dystrophy with triplet repeat expansion in TCF4 and The Potential Implications to Surgical Intervention

Kirithika Muthusamy; Beatriz Sanchez-Pintado; Nathaniel Hafford Tear; Petra Liskova; Peter S Adamson; Alison J Hardcastle; Alice E Davidson; Stephen J. Tuft

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2920.

ARVO Annual Meeting Abstract July 2018

RNA toxicity induced by TCF4 CTG expansions is ameliorated by antisense therapeutics in a patient-derived cell model of Fuchs corneal endothelial dystrophy (FECD).

Alice E Davidson; Christina Zarouchlioti; Beatriz Sanchez-Pintado; Nathaniel Hafford Tear; Pontus Klein; Petra Liskova; Kalyan Dulla; Kirithika Muthusamy; Lubica Dudakova; Pavlina Skalicka; Pirro G Hysi; Michael E. Cheetham; Stephen J. Tuft; Peter S Adamson; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3022.

Genetics October 2016

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy

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Cerys J. Evans; Alice E. Davidson; Nicole Carnt; Karla E. Rojas López; Neyme Veli; Caroline M. Thaung; Stephen J. Tuft; Alison J. Hardcastle
TAGS: basement membrane, epithelium, genotype, hereditary corneal dystrophy, mutation, phenotype, proband, cohort studies, meretoja syndrome
Invest. Ophthalmol. Vis. Sci.. 2016; 57(13):5407-5414. https://doi.org/10.1167/iovs.16-19818

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Autosomal dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2 .

Alice E Davidson; Petra Liskova; Cerys J Evans; Lubica Dudakova; Lenka Nosková; Nikolas Pontikos; Vincent Plagnol; Martin Filipec; Stanislav Kmoch; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4821.

ARVO Annual Meeting Abstract September 2016

The mutational spectrum of anterior corneal dystrophies in the UK

Cerys J Evans; Alice E Davidson; Nicole Carnt; Neyme Veli; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4824.

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Decoding the Cornea-Glaucoma Association: Evidence From Mendelian Randomization

Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review

A novel autosomal dominant Corneal Stromal Dystrophy associated with a SPARCL1 missense variant

Prevalence of posterior polymorphous corneal dystrophy type 3 in the Czech population

Mendelian Randomization analyses identify environmental factors that influence keratoconus risk

Genome Sequencing of a Familial Keratoconus Cohort

A refined amplification-free long-read sequencing method to interrogate TCF4 triplet repeats associated with Fuchs endothelial corneal dystrophy

In vitro modelling of autosomal dominant TGFBI corneal dystrophies and development of a targeted therapeutic approach

CTG18.1-mediated Fuchs endothelial corneal dystrophy: characterizing biomarkers of pathogenicity in patients with rare intermediate triplet repeat expansions

CTG18.1-mediated Fuchs Endothelial Corneal Dystrophy: defining unique signatures of transcriptomic dysregulation

Investigation of transcriptional dysregulation events driving Posterior Polymorphous Corneal Dystrophy type 1

Development of patient-derived iPSC disease models of TGFBI corneal dystrophies

Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

Relationship of severity of Fuchs endothelial corneal dystrophy with triplet repeat expansion in TCF4 and The Potential Implications to Surgical Intervention

RNA toxicity induced by TCF4 CTG expansions is ameliorated by antisense therapeutics in a patient-derived cell model of Fuchs corneal endothelial dystrophy (FECD).

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy

Autosomal dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2 .

The mutational spectrum of anterior corneal dystrophies in the UK

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