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Your search keyword '"O'Byrne, James J"' showing total 13 results
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13 results on '"O'Byrne, James J"'

1. Genetics

Author

O’Byrne, James J., Green, Andrew J., Puri, Prem, editor, and Höllwarth, Michael E., editor

Published
2023
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5. Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

Author

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, and Keegan, David J.

Published
2021
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6. Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

Author

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

Published
2023
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7. P577: Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration

Author

Tayoun, Ahmad Abou, primary, Aradhya, Swaroop, additional, Bailey, Mitch, additional, Bastaki, Laila, additional, Dosenovic, Sara, additional, Ezgü, Fatih, additional, Izzo, Emmanuela, additional, Lampe, Christina, additional, O'Byrne, James J., additional, Seratti, Guillermo, additional, Snow, Catherine, additional, Staufner, Christian, additional, and Striano, Pasquale, additional

Published
2023
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12. MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.

Author

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

Subjects
MICROPHTHALMIA, RETINITIS pigmentosa, RETINAL degeneration, ANGLE-closure glaucoma, FETAL development, ANISOMETROPIA, DIABETIC retinopathy
Abstract

The conjunction of nanophthalmos (NO) and retinitis pigmentosa (RP) provides challenges to effective clinical management while narrowing the genetic spectrum for targeted molecular diagnostics. This case study describes two not knowingly related adult cases of MFRP-associated retinopathy and nanophthalmos (MARN). Structural features including short axial lengths (mean 16.4 mm), steep keratometry (mean 49.98 D), adult-onset signs, and symptoms of retinal dystrophy and acquired disease (i.e., cataract, angle-closure glaucoma) were evident in both cases. Pathogenic variants in the MFRP gene impair both prenatal eye growth and childhood emmetropization while also leading to RPE/outer retinal degeneration in 75% of cases. We discuss the "small-eye" phenotype spectrum and associated defining characteristics, molecular mechanisms with particular focus on MFRP-associated NO with RP features (MARN), the spectrum of visual morbidities (e.g., extreme refractive error, amblyopia, cystoid macular lesions, early cataract) and the challenges of their treatment/surgical management. [ABSTRACT FROM AUTHOR]

Published
2022
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