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

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

Abstract Introduction Inherited retinal degenerations (IRD) are rare genetic disorders with > 300 known genetic loci, manifesting variably progressive visual dysfunction. IRDs were historically underserved due to lack of effective interventions. Many novel therapies will require accurate diagnosi...

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Bibliographic Details
Main Authors: Kirk A. J. Stephenson, Julia Zhu, Niamh Wynne, Adrian Dockery, Rebecca M. Cairns, Emma Duignan, Laura Whelan, Conor P. Malone, Hilary Dempsey, Karen Collins, Shana Routledge, Rajiv Pandey, Elaine Crossan, Jacqueline Turner, James J. O’Byrne, Laura Brady, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Inherited retinal degenerations
Retinal dystrophy
Ocular genetics
Genetic diagnosis
Clinical diagnostic algorithm
Public and patient involvement
Online Access:https://doi.org/10.1186/s13023-021-01841-1

Internet

https://doi.org/10.1186/s13023-021-01841-1

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