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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

ARVO Annual Meeting Abstract June 2025

Allelic Structure and Somatic Instability Dynamics of CTG18.1 in Fuchs Endothelial Corneal Dystrophy

Siyin Liu; Marc Ciosi; Amanda Nicole Sadan; Christina Zarouchlioti; Anita Szabo; Nikolas Pontikos; Kirithika Muthusamy; Petra Liskova; Stephen Tuft; Darren Monckton; Alice Davidson

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1204.

ARVO Annual Meeting Abstract June 2025

Biallelic variants in MDM1 , encoding a microtubule associated protein, are a novel cause of inherited retinal disease

Abigail R Moye; Mathieu Quinodoz; Ji Hoon Han; Ditta Zobor; Viktória Szabó; Petra Liskova; Siying Lin; Andrew Webster; Gavin Arno; Omar Abdul Rahman Mahroo; Tamar Ben-Yosef; Alexandre P Moulin; Caitlyn McCafferty; Ben Engel; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1924.

ARVO Annual Meeting Abstract June 2025

Implementing a gene burden approach in a genetically refined Fuchs’ endothelial corneal dystrophy patient cohort identifies rare microRNA variants as a novel genetic cause of disease.

Marcos Costa; Amanda Nicole Sadan; Nihar Bhattacharyya; Niuzheng Chai; Christina Zarouchlioti; Siyin Liu; Anita Szabo; Kirithika Muthusamy; Ismail Moghul; Nikolas Pontikos; Petra Liskova; Stephen Tuft; Alice Davidson

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1830.

ARVO Annual Meeting Abstract June 2025

Inherited ocular disorders and syndromes involving the eye in the Czech Roma population

Petra Liskova; Marie Vajter; Bohdan Kousal; Martin Meliska; Hana Ptackova; Hana Vlaskova; Radka Kremlikova Pourova; Lubica Dudakova

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1827.

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

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Imran H Yusuf; Richard Caswell; Stephen H Tsang; Carmen Ayuso; Dror Sharon; Juliana M F Sallum; Carel C B Hoyng; Petra Liskova; Ajoy Vincent; Madhavan Jagadeesan; Bart Peter Leroy; Jose Millán; Smaragda Kamakari; Andrew Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2132.

ARVO Annual Meeting Abstract June 2024

Autosomal recessive Leber hereditary optic neuropathy: a single center experience

Petra Liskova; Bohdan Kousal; Marie Vajter; Silvie Kelifova; Tomas Honzik; Martin Meliska; Marketa Tesarova

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):94.

ARVO Annual Meeting Abstract June 2024

Spatial transcriptomics reveal isoform-specific patterns of TCF4 dysregulation in CTG18.1 expansion positive FECD case-derived corneal endothelial cells

Nihar Bhattacharyya; Christina Zarouchlioti; Jana Jedlickova; Lubica Dudakova; Pavlina Skalicka; Kirithika Muthusamy; Petra Liskova; Alison J Hardcastle; Stephen Tuft; Alice Davidson

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):644.

ARVO Annual Meeting Abstract June 2024

Novel insights into Fuchs endothelial corneal dystrophy through genetic, demographic, and phenotypic correlations

Siyin Liu; Amanda Sadan; Anita Szabo; Nihar Bhattacharyya; Christina Zarouchlioti; Marcos Abreu Costa; Lubica Dudakova; Marc Ciosi; Pavlina Skalicka; Nikolas Pontikos; Catey Bunce; Darren Monckton; Kirithika Muthusamy; Petra Liskova; Stephen Tuft; Alice Davidson

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4229.

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 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 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 2021

Whole genome sequencing and UMI-4C provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis -regulatory disease

Stijn Van de Sompele; Eva D'haene; Thijs Van der Snickt; Sarah Vergult; Petra Liskova; Fadi Shaya; Karen Nuytemans; Jeffery M Vance; Margaret A Pericak-Vance; Andrea L Vincent; Steven Agemy; Kent W Small; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3.

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

Rare genetic causes of dominant optic atrophy

Petra Liskova; Pavel Diblik; Marketa Tesarova; Lukas Huna; Tomas Honzik; Lubica Dudakova

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3596.

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.

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Decoding the Cornea-Glaucoma Association: Evidence From Mendelian Randomization

Allelic Structure and Somatic Instability Dynamics of CTG18.1 in Fuchs Endothelial Corneal Dystrophy

Biallelic variants in MDM1 , encoding a microtubule associated protein, are a novel cause of inherited retinal disease

Implementing a gene burden approach in a genetically refined Fuchs’ endothelial corneal dystrophy patient cohort identifies rare microRNA variants as a novel genetic cause of disease.

Inherited ocular disorders and syndromes involving the eye in the Czech Roma population

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

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Autosomal recessive Leber hereditary optic neuropathy: a single center experience

Spatial transcriptomics reveal isoform-specific patterns of TCF4 dysregulation in CTG18.1 expansion positive FECD case-derived corneal endothelial cells

Novel insights into Fuchs endothelial corneal dystrophy through genetic, demographic, and phenotypic correlations

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

Mendelian Randomization analyses identify environmental factors that influence keratoconus risk

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

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

Whole genome sequencing and UMI-4C provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis -regulatory disease

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

Rare genetic causes of dominant optic atrophy

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

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