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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 2025

Inner Blood-Retina Barrier Integrity in Autosomal Dominant Retinitis Pigmentosa Associated with an RPE65 Variant

Denis Nevrov; Kieva Byrne; Jeffrey O'Callaghan; Rory Holohan; Matthew O'Riordan; Natalie Hudson; Paul Kenna; Emma Duignan; Mark Cahill; Matthew Campbell

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3168.

ARVO Annual Meeting Abstract June 2024

Inner Retinal Vascular Integrity In Retinitis Pigmentosa

Rory Holohan; Kieva Byrne; Jeffrey O'Callaghan; Matthew O'Riordan; Natalie Hudson; Paul Kenna; Emma Duignan; Mark Cahill; Matthew Campbell

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):309.

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 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

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 2020

The clinical and genetic characteristics of patients with biallelic RLBP1 -mediated retinopathy

Emma Sara Duignan; Anthony G Robson; Elena Schiff; Genevieve Wright; Hannah Knight; Michel Michaelides; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1952.

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 June 2017

Target 5000: Genetic characterisation of a cohort of inherited retinal degeneration (IRD) patients

Adrian Dockery; Matthew Carrigan; Conor Patrick Malone; Emma Duignan; David J Keegan; Kirk Stephenson; Giuliana Silvestri; Andrew Green; John McCourt; Peter Humphries; Paul F Kenna; Jane G Farrar

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2752.

ARVO Annual Meeting Abstract September 2016

CHM and RPE65 : A diagnostic paradox resolved by Next Generation Sequencing

Paul Kenna; Matthew Carrigan; Conor Patrick Malone; Emma Duignan; G Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):663.

ARVO Annual Meeting Abstract September 2016

Target 5000: Next-Generation Sequencing of the Irish Inherited Retinal Degeneration Population

Matthew Carrigan; Emma Duignan; Conor Patrick Malone; Kirk Stephenson; David J Keegan; Peter Humphries; Paul Kenna; G Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract June 2015

Further evidence suggesting pathogenicity of the PROM1 mutation (S649L) in cone-rod dystrophy

Emma Sara Duignan; Matt Carrigan; Jane Farrar; Paul Kenna

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2404.

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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