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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

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 2024

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Samantha Malka; Siying Lin; Elena Schiff; Genevieve Wright; Michel Michaelides; Omar Abdul Rahman Mahroo; Jessica Gardner; Alison J Hardcastle; Anne Marie Berry; Riccardo Sangermano; Carlo Rivolta; Mathieu Quinodoz; Kinga Maria Bujakowska; Radha Ayyagari; Gavin Arno; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4663.

ARVO Annual Meeting Abstract June 2024

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Anne Marie Berry; Pooja Biswas; Gavin Arno; Mathieu Quinodoz; Riccardo Sangermano; Jiao Xiaodong; Mukhtar Ullah; Alison J Hardcastle; Kelly A Frazer; James Fielding Hejtmancik; Matteo D'Antonio; S. Amer Riazuddin; Carlo Rivolta; Kinga Maria Bujakowska; Andrew R Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5287.

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 2023

Keratoconus Classification and Segmentation using Deep Learning on Raw Anterior-Segment Optical Coherence Tomorgraphy Imaging

Lynn Kandakji; Howard Maile; Olivia Li; Marcello Leucci; Alan Wilter; Ismail Moghul; Alison J Hardcastle; Konstantinos Balaskas; Daniel Gore; Stephen J Tuft; NIKOLAS PONTIKOS

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1099.

ARVO Annual Meeting Abstract June 2023

Investigation of OPN1LW and OPN1MW interchange haplotypes in retinal organoids from patients with blue cone monochromacy

Owen Fernando; Jessica C Gardner; Julio Cesar Corral Serrano; Michel Michaelides; Michael E Cheetham; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5072.

ARVO Annual Meeting Abstract June 2023

RP2- associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers

Michalis Georgiou; Anthony G Robson; Sami H Uwaydat; NIKOLAS PONTIKOS; Omar Abdul Rahman Mahroo; Michael E Cheetham; Andrew R Webster; Alison J Hardcastle; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4638.

Retina October 2022

Foveal Cone Structure in Patients With Blue Cone Monochromacy

PDF

Emily J. Patterson; Angelos Kalitzeos; Thomas M. Kane; Navjit Singh; Joseph Kreis; Mark E. Pennesi; Alison J. Hardcastle; Jay Neitz; Maureen Neitz; Michel Michaelides; Joseph Carroll
TAGS: retinal cone
Invest. Ophthalmol. Vis. Sci.. 2022; 63(11):23. https://doi.org/10.1167/iovs.63.11.23

Includes: Supplemental Content

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

Characterising the disease mechanisms of RP17 structural variants

Vasileios Toulis; Suzanne de Bruijn; Uira S Melo; Julio Corral-Serrano; Kwan Hau; Daniele Ottaviani; Steven J Fliesler; Susanne Roosing; Michael E Cheetham; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1595 – A0384.

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

Macular rod and cone photoreceptor structure in patients with X-linked cone dysfunction

Emily J Patterson; Angelos Kalitzeos; Thomas Kane; Navjit Singh; Melissa Kasilian; Jessica C Gardner; Jay Neitz; Maureen Neitz; Alison J Hardcastle; Joseph Carroll; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1879.

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.

Cornea March 2021

Innate and Adaptive Gene Single Nucleotide Polymorphisms Associated With Susceptibility of Severe Inflammatory Complications in Acanthamoeba Keratitis

PDF

Nicole A. Carnt; Ignatius Pang; Kathryn P. Burdon; Virginia Calder; John K. Dart; Dinesh Subedi; Alison J. Hardcastle
TAGS: acanthamoeba keratitis, disease susceptibility, genes, genetics, inflammation, single nucleotide polymorphism, interleukin-8
Invest. Ophthalmol. Vis. Sci.. 2021; 62(3):33. https://doi.org/10.1167/iovs.62.3.33

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

The association of Interleukin 8 gene SNP with severe inflammatory complications in contact lens wearers experiencing Acanthamoeba Keratitis.

Nicole Ann Carnt; Ignatius Pang; Kathryn P Burdon; Virginia L Calder; John Dart; Dinesh Subedi; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3998.

ARVO Annual Meeting Abstract June 2020

Longitudinal assessment of foveal cone structure in blue cone monochromacy

Emily J Patterson; Angelos Kalitzeos; Navjit Singh; Thomas Michael Kane; Melissa Kasilian; Brian P Higgins; Jessica C Gardner; Jay Neitz; Alison J Hardcastle; Joseph Carroll; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5270.

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

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

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Mendelian Randomization analyses identify environmental factors that influence keratoconus risk

Genome Sequencing of a Familial Keratoconus Cohort

Keratoconus Classification and Segmentation using Deep Learning on Raw Anterior-Segment Optical Coherence Tomorgraphy Imaging

Investigation of OPN1LW and OPN1MW interchange haplotypes in retinal organoids from patients with blue cone monochromacy

RP2- associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers

Foveal Cone Structure in Patients With Blue Cone Monochromacy

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

Characterising the disease mechanisms of RP17 structural variants

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

Macular rod and cone photoreceptor structure in patients with X-linked cone dysfunction

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

Innate and Adaptive Gene Single Nucleotide Polymorphisms Associated With Susceptibility of Severe Inflammatory Complications in Acanthamoeba Keratitis

The association of Interleukin 8 gene SNP with severe inflammatory complications in contact lens wearers experiencing Acanthamoeba Keratitis.

Longitudinal assessment of foveal cone structure in blue cone monochromacy

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