Risk of Neurotoxicity with Multiple General Anaesthetics for Examination Under Anaesthesia in Paediatric Ophthalmology – A Cause for Concern?

por O’Connell, Ann, Stephenson, Kirk A J, Flitcroft, Ian
Publicado 2023

Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups

por Quigley, Clare, Stephenson, Kirk A. J., Kenna, Paul, Cassidy, Lorraine
Publicado 2023

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

por Stephenson, Kirk, Dockery, Adrian, Wynne, Niamh, Carrigan, Matthew, Kenna, Paul, Jane Farrar, G., Keegan, David
Publicado 2018

A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics

por Stephenson, Kirk A. J., Dockery, Adrian, O’Keefe, Michael, Green, Andrew, Farrar, G. Jane, Keegan, David J.
Publicado 2019

Presentations to eye emergency departments with flashes and floaters differ dependent on incident solar radiation

por Powell, Sarah K., Garrahy, Darragh, Hurley, Daire J., Zaidi, Syed Bilal Hassan, McEllistrem, Brian, Stephenson, Kirk A. J.
Publicado 2023

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations

por Dockery, Adrian, Stephenson, Kirk, Keegan, David, Wynne, Niamh, Silvestri, Giuliana, Humphries, Peter, Kenna, Paul F., Carrigan, Matthew, Farrar, G. Jane
Publicado 2017

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

por Stephenson, Kirk A. J., Zhu, Julia, Dockery, Adrian, Whelan, Laura, Burke, Tomás, Turner, Jacqueline, O’Byrne, James J., Farrar, G. Jane, Keegan, David J.
Publicado 2022

MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report

por O’Connell, Ann, Zhu, Julia, Stephenson, Kirk A.J., Whelan, Laura, Dockery, Adrian, Turner, Jacqueline, O’Byrne, James J., Farrar, G. Jane, Keegan, David
Publicado 2022

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

por Zhu, Julia, Stephenson, Kirk A. J., Dockery, Adrian, Turner, Jacqueline, O’Byrne, James J., Fitzsimon, Susan, Farrar, G. Jane, Flitcroft, D. Ian, Keegan, David J.
Publicado 2022

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

por Carrigan, Matthew, Duignan, Emma, Malone, Conor P. G., Stephenson, Kirk, Saad, Tahira, McDermott, Ciara, Green, Andrew, Keegan, David, Humphries, Peter, Kenna, Paul F., Farrar, G. Jane
Publicado 2016

Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland

por Whelan, Laura, Dockery, Adrian, Wynne, Niamh, Zhu, Julia, Stephenson, Kirk, Silvestri, Giuliana, Turner, Jacqueline, O’Byrne, James J., Carrigan, Matthew, Humphries, Peter, Keegan, David, Kenna, Paul F., Farrar, G. Jane
Publicado 2020

Polarization-Diversity Optical Coherence Tomography Assessment of Choroidal Nevi

por Miao, Yusi, Jung, Hoyoung, Hsu, Destiny, Song, Jun, Ni, Shuibin, Ma, Da, Jian, Yifan, Makita, Shuichi, Yasuno, Yoshiaki, Sarunic, Marinko V., Stephenson, Kirk A. J., Paton, Katherine, Mammo, Zaid, Ju, Myeong Jin
Publicado 2023

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

por Stephenson, Kirk A. J., Whelan, Laura, Zhu, Julia, Dockery, Adrian, Wynne, Niamh C., Cairns, Rebecca M., Kirk, Claire, Turner, Jacqueline, Duignan, Emma S., O'Byrne, James J., Silvestri, Giuliana, Kenna, Paul F., Farrar, G. Jane, Keegan, David J.
Publicado 2023

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

por Whelan, Laura, Dockery, Adrian, Stephenson, Kirk A. J., Zhu, Julia, Kopčić, Ella, Post, Iris J. M., Khan, Mubeen, Corradi, Zelia, Wynne, Niamh, O’ Byrne, James J., Duignan, Emma, Silvestri, Giuliana, Roosing, Susanne, Cremers, Frans P. M., Keegan, David J., Kenna, Paul F., Farrar, G. Jane
Publicado 2023

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

por Stephenson, Kirk A. J., Zhu, Julia, Wynne, Niamh, Dockery, Adrian, Cairns, Rebecca M., Duignan, Emma, Whelan, Laura, Malone, Conor P., Dempsey, Hilary, Collins, Karen, Routledge, Shana, Pandey, Rajiv, Crossan, Elaine, Turner, Jacqueline, O’Byrne, James J., Brady, Laura, Silvestri, Giuliana, Kenna, Paul F., Farrar, G. Jane, Keegan, David J.
Publicado 2021