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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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

Cornea March 2021

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

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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. doi: 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. doi:

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. doi:

ARVO Annual Meeting Abstract July 2019

Leber Congenital Amaurosis associated with GUCY2D variants: A Retrospective Natural History Study in preparation for future Therapies.

ZAINA Ibrahim BOUZIA; Michalis Georgiou; Sarah Hull; Anthony G Robson; Andrew Webster; Alison J Hardcastle; Alessia Fiorentino; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5421. doi:

ARVO Annual Meeting Abstract July 2019

Modelling RP2 retinitis pigmentosa using iPSC derived retinal organoids

Amelia Lane; Katarina Jovanovic; Daniele Ottaviani; Anna Brugulat-Panes; Ciara Shortall; G. Jane Farrar; Alison J Hardcastle; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2870. doi:

ARVO Annual Meeting Abstract July 2019

Temporal resolution of alternative splicing in the developing human retina using 3D retinal organoids

Daniele Ottaviani; Amelia Lane; David A Parfitt; Katarina Jovanovic; Paul Edward Sladen; Jessica Clare Gardner; Alison J Hardcastle; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3333. doi:

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. doi:

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. doi:

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. doi:

New Developments in Vision Research September 2018

Translational Retinal Research and Therapies

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Alison J. Hardcastle; Paul A. Sieving; José-Alain Sahel; Samuel G. Jacobson; Artur V. Cideciyan; John G. Flannery; William A. Beltran; Gustavo D. Aguirre
TAGS: gene therapy, genes, mutation, optogenetics, photoreceptors, proteins, retina, retinal cone, retinitis pigmentosa, rhodopsin
Trans. Vis. Sci. Tech.. 2018; 7(5):8. doi: https://doi.org/10.1167/tvst.7.5.8

Retina August 2018

Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations

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Emily J. Patterson; Angelos Kalitzeos; Melissa Kasilian; Jessica C. Gardner; Jay Neitz; Alison J. Hardcastle; Maureen Neitz; Joseph Carroll; Michel Michaelides
TAGS: mutation, opsin, retinal cone, x-linked inheritance
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4238-4248. doi: https://doi.org/10.1167/iovs.18-24699

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

X-linked cone dystrophy and Blue Cone Monochromacy caused by novel and rare L/M opsin interchange haplotypes.

Jessica Clare Gardner; Petra Liskova; Jonathan Ruddle; Bohdan Kousal; Michel Michaelides; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2325. doi:

ARVO Annual Meeting Abstract July 2018

Five novel ZEB1 mutations including a 0.34 Mb deletion detected by whole genome sequencing in patients with posterior polymorphous corneal dystrophy type 3

Petra Liskova; Lubica Dudakova; Cerys J. Evans; Pavlina Skalicka; Nikolas Pontikos; Ales Horinek; Tomas Kubena; Alice Davidson; Alison J Hardcastle; Stephen J. Tuft

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2917. doi:

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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

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

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

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

Leber Congenital Amaurosis associated with GUCY2D variants: A Retrospective Natural History Study in preparation for future Therapies.

Modelling RP2 retinitis pigmentosa using iPSC derived retinal organoids

Temporal resolution of alternative splicing in the developing human retina using 3D retinal organoids

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

Translational Retinal Research and Therapies

Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations

X-linked cone dystrophy and Blue Cone Monochromacy caused by novel and rare L/M opsin interchange haplotypes.

Five novel ZEB1 mutations including a 0.34 Mb deletion detected by whole genome sequencing in patients with posterior polymorphous corneal dystrophy type 3

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