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Genetics July 2023

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

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Kirk A. J. Stephenson; Laura Whelan; Julia Zhu; Adrian Dockery; Niamh C. Wynne; Rebecca M. Cairns; Claire Kirk; Jacqueline Turner; Emma S. Duignan; James J. O'Byrne; Giuliana Silvestri; Paul F. Kenna; G. Jane Farrar; David J. Keegan
TAGS: genetics, genotype, ireland, phenotype, usher syndrome, cataract, signs and symptoms, blindness, eye, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2023; 64(10):23. https://doi.org/10.1167/iovs.64.10.23

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2022

Functional assessment of putative splice-altering variants detected in an Irish inherited retinal disease cohort

Ciara Shortall; Laura Whelan; Ella Kopcic; Adrian Dockery; Emma Duignan; Niamh Wynne; Julia Zhu; Kirk A.J. Stephenson; Claire Kirk; Jacqueline Turner; James J O'Byrne; Giuliana Silvestri; David J Keegan; Paul F Kenna; G.Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1598 – A0387.

ARVO Annual Meeting Abstract June 2021

Sequencing of ABCA4 in a large international Stargardt disease cohort reveals novel pathogenic deep intronic variation and a variant enriched in Ireland.

Laura Whelan; Adrian Dockery; Mubeen Khan; Zelia Corradi; Kirk A.J. Stephenson; Julia Zhu; Stephanie Cornelis; Jacqueline Turner; James J O'Byrne; Giuliana Silvestri; David J Keegan; Paul F Kenna; Susanne Roosing; Claire-Marie Dhaenens; Frans P.M. Cremers; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2.

ARVO Annual Meeting Abstract June 2021

Target 5000: Evolution of the Irish National Program for Inherited Retinal Degenerations

Kirk A.J. Stephenson; Julia Zhu; Niamh Wynne; Rebecca Cairns; Adrian Dockery; Laura Whelan; Emma Duignan; Jacqueline Turner; James J O'Byrne; Laura Brady; Giuliana Silvestri; Paul F Kenna; G. Jane Farrar; David J Keegan

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):179.

ARVO Annual Meeting Abstract June 2021

Barriers and Enablers of attendance at Northern Ireland Diabetic Eye Screening: A Qualitative Perspective from Young People aged 12-26

Laura Nicole Cushley; Aaron Bell; Katie Curran; Giuliana Silvestri; Una Graham; David McCance; Tunde Peto

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1076.

ARVO Annual Meeting Abstract June 2021

Genotype-phenotype correlations of known and novel variants in the PRPH2 gene.

Adrian Dockery; Laura Whelan; Mubeen Khan; Zelia Corradi; Kirk A.J. Stephenson; Julia Zhu; Claire Kirk; Rebecca Cairns; James J O'Byrne; Jacqueline Turner; Claire-Marie Dhaenens; Giuliana Silvestri; David J Keegan; Paul F Kenna; Frans P.M. Cremers; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1558.

ARVO Annual Meeting Abstract June 2020

Intronic variants in ABCA4 significantly contribute to the pathogenesis of Stargardt disease and cone-rod dystrophy in Ireland.

Laura Whelan; Adrian Dockery; Mubeen Khan; Stéphanie Cornelis; Niamh Wynne; James O'Byrne; Julia Zhu; Jacqueline Turner; Kirk Stephenson; Giuliana Silvestri; David J Keegan; Paul Kenna; Susanne Roosing; Claire Marie Dhaenens; G. Jane Farrar; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):837.

Articles April 2020

Comparison of the Morphology of the Foveal Pit Between African and Caucasian Populations

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Moussa A. Zouache; Giuliana Silvestri; Winfried M. Amoaku; Vittorio Silvestri; William C. Hubbard; Christian Pappas; Stephen Akafo; Seth Lartey; Rebecca R. Mastey; Joseph Carroll; Gregory S. Hageman
TAGS: european continental ancestry group, language morphology, morphology, volume
Trans. Vis. Sci. Tech.. 2020; 9(5):24. https://doi.org/10.1167/tvst.9.5.24

ARVO Annual Meeting Abstract July 2019

Analysis of Irish Inherited Retinal Degeneration Patients with ABCA4 Gene Mutations.

Niamh Wynne; Karen Collins; Hilary Dempsey; Kirk Stephenson; David J Keegan; Giuliana Silvestri; Adrian Dockery; Gwyneth Jane Farrar; Paul F Kenna

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):383.

ARVO Annual Meeting Abstract July 2019

Target 5000: Target Capture Genotyping of Retinal Degenerations in Ireland

Adrian Dockery; Niamh C Wynne; Kirk Stephenson; Laura Whelan; Peter Humphries; Giuliana Silvestri; Matthew Carrigan; David J Keegan; Paul F Kenna; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2812.

ARVO Annual Meeting Abstract July 2019

Patient Involvement in Development of Customised Care Plans for Genetically-confirmed Inherited Retinal Degeneration

Aoife Mary Long; Kirk Stephenson; Julia Zhu; Adrian Dockery; Giuliana Silvestri; Paul F Kenna; Laura Brady; James O'Byrne; Jackie Turner; G. Jane Farrar; David J Keegan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2953.

ARVO Annual Meeting Abstract July 2019

Is Visual Field Assessment Necessary in Retinitis Pigmentosa?

Rebecca Cairns; Jonathan Jackson; Vittorio Silvestri; Katie Graham; Giuliana Silvestri

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4502.

ARVO Annual Meeting Abstract July 2019

Correlation of Pregnancy and Use of the Oral Contraceptive Pill with Reported Deterioration of Vision in Patients with Inherited Retinal Dystrophies

Evelyn Moore; Sharon Alexander; Laura Cushley; Giuliana Silvestri

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4526.

ARVO Annual Meeting Abstract July 2019

Is cataract extraction and intraocular lens implant surgery a benefit for patients with Retinitis Pigmentosa

Sharon Alexander; Evelyn Moore; Laura Cushley; Giuliana Silvestri

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4527.

ARVO Annual Meeting Abstract July 2019

HTRA1 gene interaction network informs Age-Related Macular Degeneration (AMD) risk

Leah Owen; Patrice Marie Hicks; Denise J Morgan; Jeeyun Ahn; Giuliana Silvestri; Joan W Miller; Kyu Hyung Park; maria G Kotoula; Ivana K Kim; Lindsay A Farrer; Neena B Haider; Margaret M DeAngelis

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4895.

ARVO Annual Meeting Abstract July 2019

The Phenotype & Genotype of Usher Syndrome in Ireland

Kirk Stephenson; Adrian Dockery; Niamh C Wynne; Emma Duignan; Giuliana Silvestri; Paul F Kenna; Gwyneth Jane Farrar; David J Keegan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5170.

ARVO Annual Meeting Abstract July 2019

Severe Female Carrier Phenotype in an Irish Pedigree with Novel Massive Deletion in the CHM Gene

Julia Zhu; Kirk Stephenson; Adrian Dockery; Niamh C Wynne; G. Jane Farrar; Paul F Kenna; Giuliana Silvestri; David J Keegan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5426.

ARVO Annual Meeting Abstract July 2019

Outer Retinal Layers as Predictors of Visual Function and Response to treatment in Macular Edema in Retinitis Pigmentosa

Vittorio Silvestri; Sharon Alexander; Evelyn Moore; Rebecca Cairns; Laura Cushley; Giuliana Silvestri

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1851.

ARVO Annual Meeting Abstract July 2019

Is Poor Compliance with Diabetic Eye Screening in Young Adults an Indicator of Poor Diabetes Control?

Laura Nicole Cushley; Aaron Bell; Giuliana Silvestri; Una Graham; David McCance; Nicola Quinn; Tunde Peto

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1081.

ARVO Annual Meeting Abstract July 2018

A novel mutation in the FLVCR1 gene implicated in Retinitis Pigmentosa without ataxia.

Adrian Dockery; Matthew Carrigan; Kirk Stephenson; Niamh Wynne; Giuliana Silvestri; David J Keegan; Paul F Kenna; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5406.

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Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

Functional assessment of putative splice-altering variants detected in an Irish inherited retinal disease cohort

Sequencing of ABCA4 in a large international Stargardt disease cohort reveals novel pathogenic deep intronic variation and a variant enriched in Ireland.

Target 5000: Evolution of the Irish National Program for Inherited Retinal Degenerations

Barriers and Enablers of attendance at Northern Ireland Diabetic Eye Screening: A Qualitative Perspective from Young People aged 12-26

Genotype-phenotype correlations of known and novel variants in the PRPH2 gene.

Intronic variants in ABCA4 significantly contribute to the pathogenesis of Stargardt disease and cone-rod dystrophy in Ireland.

Comparison of the Morphology of the Foveal Pit Between African and Caucasian Populations

Analysis of Irish Inherited Retinal Degeneration Patients with ABCA4 Gene Mutations.

Target 5000: Target Capture Genotyping of Retinal Degenerations in Ireland

Patient Involvement in Development of Customised Care Plans for Genetically-confirmed Inherited Retinal Degeneration

Is Visual Field Assessment Necessary in Retinitis Pigmentosa?

Correlation of Pregnancy and Use of the Oral Contraceptive Pill with Reported Deterioration of Vision in Patients with Inherited Retinal Dystrophies

Is cataract extraction and intraocular lens implant surgery a benefit for patients with Retinitis Pigmentosa

HTRA1 gene interaction network informs Age-Related Macular Degeneration (AMD) risk

The Phenotype & Genotype of Usher Syndrome in Ireland

Severe Female Carrier Phenotype in an Irish Pedigree with Novel Massive Deletion in the CHM Gene

Outer Retinal Layers as Predictors of Visual Function and Response to treatment in Macular Edema in Retinitis Pigmentosa

Is Poor Compliance with Diabetic Eye Screening in Young Adults an Indicator of Poor Diabetes Control?

A novel mutation in the FLVCR1 gene implicated in Retinitis Pigmentosa without ataxia.

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