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Genetics July 2025

Quantitative Choroidal Analysis of Molecularly Characterized Retinitis Pigmentosa

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Kirk A. J. Stephenson; Tiffany Tse; Jiwon Hwang; Andrii Kavetskyi; Shanil R. Dhanji; Olubayo U. Kolawole; Cheryl Y. Gregory-Evans; Kaivon Pakzad-Vaezi; Zaid N. Mammo; Kevin Gregory-Evans; Myeong Jin Ju
TAGS: cardiovascular imaging, cortical blindness, eye, genotype, retinitis pigmentosa, myopia, cohort studies, pseudophakia, volume, choroid
Invest. Ophthalmol. Vis. Sci.. 2025; 66(9):11. https://doi.org/10.1167/iovs.66.9.11

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2025

Progression mapping of RPGR -associated Retinitis Pigmentosa using structural and functional metrics

Liran Hanan; Kirk Stephenson; Vincent Ajoy; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):6046.

ARVO Annual Meeting Abstract June 2025

Outcomes of Luxturna treatment in biallelic RPE65 -patients with ultra-low vision

Abrar K Alsalamah; Kirk A.J. Stephenson; Deepika C Parameswarappa; Mark Seamone; Flavio Rizende; Cynthia Qian; Rajeev Hemant Muni; Peter Kertes; Ian M MacDonald; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):OD107.

ARVO Annual Meeting Abstract June 2025

Quantitative Choroidal Analysis in Patients with Molecularly Characterized Retinitis Pigmentosa

Charley Cai; Jiwon Hwang; Tiffany Tse; Andrii Kavetskyi; Shanil Dhanji; Olubayo Kolawole; Cheryl Y Gregory-Evans; Kaivon Pakzad-Vaezi; Zaid Mammo; Kevin Gregory-Evans; Myeong Jin Ju; Kirk A.J. Stephenson

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1455.

ARVO Annual Meeting Abstract June 2025

Deep phenotyping of PRPF31 -associated Dominant Retinitis Pigmentosa

Kirk A.J. Stephenson; Brian Ballios; Elise Heon; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1444.

ARVO Annual Meeting Abstract June 2024

Macular PD-OCT analysis of Inherited Retinal Degenerations – exploration of a novel imaging endpoint

Kirk A.J. Stephenson; Tiffany Tse; Shanil R Dhanji; Cheryl Y Gregory-Evans; Myeong Jin Ju; Kevin Gregory-Evans

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5911.

Multidisciplinary Ophthalmic Imaging November 2023

Polarization-Diversity Optical Coherence Tomography Assessment of Choroidal Nevi

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Yusi Miao; Hoyoung Jung; Destiny Hsu; Jun Song; Shuibin Ni; Da Ma; Yifan Jian; Shuichi Makita; Yoshiaki Yasuno; Marinko V. Sarunic; Kirk A. J. Stephenson; Katherine Paton; Zaid Mammo; Myeong Jin Ju
TAGS: eye neoplasms, functional imaging, melanins, nevus, nevus of choroid, optical coherence tomography, diagnostic imaging, fundus photography, melanocytic nevus
Invest. Ophthalmol. Vis. Sci.. 2023; 64(14):6. https://doi.org/10.1167/iovs.64.14.6

Includes: Supplemental Content

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

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

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 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 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 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

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

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.

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Quantitative Choroidal Analysis of Molecularly Characterized Retinitis Pigmentosa

Progression mapping of RPGR -associated Retinitis Pigmentosa using structural and functional metrics

Outcomes of Luxturna treatment in biallelic RPE65 -patients with ultra-low vision

Quantitative Choroidal Analysis in Patients with Molecularly Characterized Retinitis Pigmentosa

Deep phenotyping of PRPF31 -associated Dominant Retinitis Pigmentosa

Macular PD-OCT analysis of Inherited Retinal Degenerations – exploration of a novel imaging endpoint

Polarization-Diversity Optical Coherence Tomography Assessment of Choroidal Nevi

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

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

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

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

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

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

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

Target 5000: Target Capture Genotyping of Retinal Degenerations in Ireland

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

The Phenotype & Genotype of Usher Syndrome in Ireland

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

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

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