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Meeting Abstract (14)
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Investigative Ophthalmology & Visual Science (15)

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ARVO Annual Meeting Abstract (14)
Genetics (1)

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Genetics (1)

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blindness (1)
cataract (1)
cohort studies (1)
eye (1)
genetics (1)
genotype (1)
ireland (1)
phenotype (1)
signs and symptoms (1)
usher syndrome (1)

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ARVO Annual Meeting Abstract June 2024

Novel findings from a smMIPs sequencing study of 223 individuals from an Irish cohort with macular degenerations

Ella Kopcic; Rebekkah Hitti-Malin; Laura Whelan; Daan Panneman; Erica G.M. Boonen; Emma Duignan; Paul Kenna; David J Keegan; Laura K Finnegan; Frans Cremers; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4228.

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 2023

Secondary Acquired Features Represent Points of Intervention & Diagnostic Clues for Inherited Retinal Degenerations

Kirk A.J. Stephenson; Julia Zhu; Adrian Dockery; Laura Whelan; Jacqueline Turner; James O'Byrne; Daniel Ian Flitcroft; G Jane Farrar; David J Keegan

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1545.

ARVO Annual Meeting Abstract June 2022

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees Following Initial Negative Findings on Panel-Based Next Generation Sequencing

Kirk A.J. Stephenson; Julia Zhu; Adrian Dockery; Laura Whelan; Tomas Burke; Jacqueline Turner; James J O'Byrne; G.Jane Farrar; David J Keegan

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):613 – A0328.

ARVO Annual Meeting Abstract June 2022

A novel KCNV2 variant in Cone Dystrophy with Supernormal Rod Response (CDSRR) – Evidence for Pathogenicity

Paul F Kenna; Emma Duignan; Laura Whelan; Ciara Shortall; G.Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):490 – A0067.

ARVO Annual Meeting Abstract June 2022

A nonsense variant in PEX5 is associated with an atypical peroxisome biogenesis disorder and retinitis pigmentosa.

Laura Whelan; Adrian Dockery; Ciara Shortall; Emma Duignan; Susanne Roosing; Paul F Kenna; G.Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):508 – A0085.

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

Genotype / Phenotype correlation of autosomal dominant Retinitis Pigmentosa (adRP) due to deletion of the PRPF31 gene

Paul F Kenna; Emma Duignan; Adrian Dockery; Hilary Dempsey; Laura Whelan; Susanne Roosing; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1574.

ARVO Annual Meeting Abstract June 2021

Identification and functional analysis of novel deep intronic and structural ABCA4 variants in 876 Stargardt disease cases

Zelia Corradi; Mubeen Khan; Ketan Mishra; Laura Whelan; Rebekkah Hitti-Malin; Stephanie Cornelis; Claire-Marie Dhaenens; G. Jane Farrar; Dror Sharon; Frans P.M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1567.

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.

ARVO Annual Meeting Abstract June 2020

ATXN7 Expansion Repeat Presenting with Isolated Maculopathy

Paul F Kenna; Niamh Wynne; Peter Humphries; Laura Whelan; Adrian Dockery; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4465.

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.

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