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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 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 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:

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:

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:

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. doi:

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. doi:

ARVO Annual Meeting Abstract July 2018

Probing the function of Arl3 in CRISPR modified cell models

Katarina Jovanovic; Amelia Lane; Nele Schwarz; Alison J Hardcastle; Michael E. Cheetham

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3061. doi:

ARVO Annual Meeting Abstract June 2017

Mutations in the X-linked gene PRPS1 cause retinal degeneration in females

Alessia Fiorentino; Gavin Arno; Nikolas Pontikos; Kaoru Fujinami; Takaaki Hayashi; Vincent Plagnol; Michael E Cheetham; Takeshi Iwata; Andrew R Webster; Michel Michaelides; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1243. doi:

ARVO Annual Meeting Abstract June 2017

Mutations in spliceosome-associated protein homolog CWC27 lead to a spectrum of syndromic and nonsydromic retinal degeneration disease

Rui Chen; mingchu xu; Yajing Xie; Hana Abouzeid; Christopher Gordon; Alessia Fiorentino; Zixi Sun; Anna Lehman; Carmen Ayuso; Alison J Hardcastle; Ruifang Sui; Rando Allikmets; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3818. doi:

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. doi: 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. doi:

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. doi:

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Longitudinal assessment of foveal cone structure in blue cone monochromacy

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

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

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

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

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).

Probing the function of Arl3 in CRISPR modified cell models

Mutations in the X-linked gene PRPS1 cause retinal degeneration in females

Mutations in spliceosome-associated protein homolog CWC27 lead to a spectrum of syndromic and nonsydromic retinal degeneration disease

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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