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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, mutation, blindness, retinal cone, dog, domestic, genes, genome, animal model, photoreceptors, retinal degeneration, retinitis pigmentosa, rhodopsin, rod photoreceptors, vision, mice, proteins, retina, leber's amaurosis, spatial vectors, optogenetics
Trans. Vis. Sci. Tech.. 2018; 7(5):8. doi: 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, retinal cone, x-linked inheritance, opsin
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4238-4248. doi: 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: phenotype, mutation, epithelium, basement membrane, cohort studies, hereditary corneal dystrophy, genotype, proband, meretoja syndrome
Invest. Ophthalmol. Vis. Sci.. 2016; 57(13):5407-5414. doi: 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:

Visual Psychophysics and Physiological Optics July 2016

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency

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Emily J. Patterson; Melissa Wilk; Christopher S. Langlo; Melissa Kasilian; Michael Ring; Robert B. Hufnagel; Adam M. Dubis; James J. Tee; Angelos Kalitzeos; Jessica C. Gardner; Zubair M. Ahmed; Robert A. Sisk; Michael Larsen; Stacy Sjoberg; Thomas B. Connor; Alfredo Dubra; Jay Neitz; Alison J. Hardcastle; Maureen Neitz; Michel Michaelides; Joseph Carroll
TAGS: phenotype, color vision defect, retinal cone, mosaicism, x-linked inheritance, pathophysiology
Invest. Ophthalmol. Vis. Sci.. 2016; 57(8):3853-3863. doi: 10.1167/iovs.16-19608

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

Assessing cone mosaic disruption in patients with X-linked cone dysfunction

Emily J Patterson; James Tee; Jay Neitz; Christopher S Langlo; Alfredo Dubra; Maureen Neitz; Adam M Dubis; Alison J Hardcastle; Michel Michaelides; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):88. doi:

Genetics January 2015

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

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Alice E. Davidson; Edmondo Borasio; Petra Liskova; Arif O. Khan; Hala Hassan; Michael E. Cheetham; Vincent Plagnol; Fowzan S. Alkuraya; Stephen J. Tuft; Alison J. Hardcastle
TAGS: phenotype, mutation, cohort studies, corneal diseases, keratoconus, segregation analysis, ehlers-danlos syndrome 6b
Invest. Ophthalmol. Vis. Sci.. 2015; 56(1):578-586. doi: 10.1167/iovs.14-15792

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Identification and segregation analysis of rare ZNF469 coding variants in familial Keratoconus

Alice Davidson; Edmondo Borasio; Valentina Cipriani; Petra Liskova; Vincent Plagnol; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6412. doi:

ARVO Annual Meeting Abstract April 2014

Genotype-Phenotype Comparison and Functional Investigation of Cone Opsin Variants

Jessica Clare Gardner; Gerald Liew; Yinghua Quan; Hisao Ueyama; Jan Liebelt; Jonathan B Ruddle; Anthony T Moore; Michel Michaelides; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):4543. doi:

ARVO Annual Meeting Abstract April 2014

Association of CHRDL1 Mutations with X-linked Megalocornea and Megalocornea-Mental Retardation (MMR) Syndrome

Sek Shir Cheong; Alice Davidson; Vincent Plagnol; Jonathan B Ruddle; Hala Ali; Jessica Clare Gardner; Jens M Hertz; Daniela T Pilz; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1002. doi:

ARVO Annual Meeting Abstract April 2014

Novel ZEB1 mutations and associated posterior polymorphous corneal dystrophy phenotypes

Petra Liskova; Lubica Dudakova; Alice E Davidson; Sarka Kalasova; Alison J Hardcastle; Stephen J Tuft

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1013. doi:

Multidisciplinary Ophthalmic Imaging December 2012

The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic

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Joseph Carroll; Alfredo Dubra; Jessica C. Gardner; Liliana Mizrahi-Meissonnier; Robert F. Cooper; Adam M. Dubis; Rick Nordgren; Mohamed Genead; Thomas B. Connor, Jr; Kimberly E. Stepien; Dror Sharon; David M. Hunt; Eyal Banin; Alison J. Hardcastle; Anthony T. Moore; David R. Williams; Gerald Fishman; Jay Neitz; Maureen Neitz; Michel Michaelides
TAGS: phenotype, mutation, retinal cone, opsin, photoreceptors, mosaicism, retina, personal integrity
Invest. Ophthalmol. Vis. Sci.. 2012; 53(13):8006-8015. doi: 10.1167/iovs.12-11087

Includes: Supplemental Content

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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

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency

Assessing cone mosaic disruption in patients with X-linked cone dysfunction

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

Identification and segregation analysis of rare ZNF469 coding variants in familial Keratoconus

Genotype-Phenotype Comparison and Functional Investigation of Cone Opsin Variants

Association of CHRDL1 Mutations with X-linked Megalocornea and Megalocornea-Mental Retardation (MMR) Syndrome

Novel ZEB1 mutations and associated posterior polymorphous corneal dystrophy phenotypes

The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic

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