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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. doi:

ARVO Annual Meeting Abstract June 2022

Presence of a scotopic scotoma in individuals with fragmented foveal avascular zones

Niamh Wynne; Jenna Grieshop; Brian Higgins; Rachel Linderman; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3783 – F0204. doi:

ARVO Annual Meeting Abstract June 2022

Disrupted Macular Cone Post-Synaptic Circuitry is Related to Poor Vision in Albinism

Uma Balakrishnan; Niamh Wynne; Wanda Pfeifer; Joseph Carroll; Arlene V Drack

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3533. doi:

Articles May 2022

Comparison of Cone Mosaic Metrics From Images Acquired With the SPECTRALIS High Magnification Module and Adaptive Optics Scanning Light Ophthalmoscopy

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Niamh Wynne; Heather Heitkotter; Erica N. Woertz; Robert F. Cooper; Joseph Carroll
TAGS: diagnostic imaging, magnification, mosaicism, ophthalmoscopy, optics, retinal cone, photoreceptors, image quality
Trans. Vis. Sci. Tech.. 2022; 11(5):19. doi: https://doi.org/10.1167/tvst.11.5.19

Includes: Multimedia, Supplemental Content

ARVO Annual Meeting Abstract June 2021

Reproducibility in peak foveal cone density characterization in AOSLO images.

Niamh Wynne; Jenna Cava; Mina Gaffney; Heather Heitkotter; Abigail Schedit; Robert F Cooper; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1806. doi:

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. doi:

Articles May 2021

Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure

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Katie M. Litts; Erica N. Woertz; Niamh Wynne; Brian P. Brooks; Alicia Chacon; Thomas B. Connor, Jr.; Deborah Costakos; Alina Dumitrescu; Arlene V. Drack; Gerald A. Fishman; William W. Hauswirth; Christine N. Kay; Byron L. Lam; Michel Michaelides; Mark E. Pennesi; Kimberly E. Stepien; Sasha Strul; C. Gail Summers; Joseph Carroll
TAGS: achromatopsia, albinism, retinal cone, diagnostic imaging, mosaicism
Trans. Vis. Sci. Tech.. 2021; 10(6):22. doi: https://doi.org/10.1167/tvst.10.6.22

Includes: Supplemental Content

ARVO Imaging in the Eye Conference Abstract July 2020

Comparison of cone mosaic metrics between the Spectralis high magnification module (HMM) and adaptive optics scanning light ophthalmoscopy (AOSLO)

Niamh Catherine Wynne; Heather Heitkotter; Erica N Woertz; Jenna Cava; Eric Buckland; Robert Cooper; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2020; 61(9):PB0064. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract June 2020

Towards an objective structural grading scheme of foveal hypoplasia in human albinism

Erica N. Woertz; Gelique Ayala; Niamh Wynne; Taylor M. Dunn; Deborah Costakos; C. Gail Summers; Sasha Strul; Arlene V Drack; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5261. doi:

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. doi:

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. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract July 2018

Genotype-Phenotype Correlations of Patients Given a Diagnosis of Congenital Stationary Night Blindness (CSNB). How Stationary Are Some Forms of CSNB?

Paul F Kenna; Niamh Wynne; Matthew Carrigan; Adrian Dockery; Karen Collins; Hilary Dempsey; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2332. doi:

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. doi:

ARVO Annual Meeting Abstract June 2017

Blue Cone Monochromatism Identified in an Irish Family

Niamh Catherine Wynne; Conor Patrick Malone; Matthew Carrigan; Karen Collins; Hilary Dempsey; Andrew Green; Jane G Farrar; Paul Kenna

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2780. doi:

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

Presence of a scotopic scotoma in individuals with fragmented foveal avascular zones

Disrupted Macular Cone Post-Synaptic Circuitry is Related to Poor Vision in Albinism

Comparison of Cone Mosaic Metrics From Images Acquired With the SPECTRALIS High Magnification Module and Adaptive Optics Scanning Light Ophthalmoscopy

Reproducibility in peak foveal cone density characterization in AOSLO images.

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

Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure

Comparison of cone mosaic metrics between the Spectralis high magnification module (HMM) and adaptive optics scanning light ophthalmoscopy (AOSLO)

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

ATXN7 Expansion Repeat Presenting with Isolated Maculopathy

Towards an objective structural grading scheme of foveal hypoplasia in human albinism

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

Target 5000: Target Capture Genotyping of Retinal Degenerations in Ireland

The Phenotype & Genotype of Usher Syndrome in Ireland

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

Genotype-Phenotype Correlations of Patients Given a Diagnosis of Congenital Stationary Night Blindness (CSNB). How Stationary Are Some Forms of CSNB?

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

Blue Cone Monochromatism Identified in an Irish Family

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