Ontology highlight
ABSTRACT:
SUBMITTER: Whelan L
PROVIDER: S-EPMC7016747 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Whelan Laura L Dockery Adrian A Wynne Niamh N Zhu Julia J Stephenson Kirk K Silvestri Giuliana G Turner Jacqueline J O'Byrne James J JJ Carrigan Matthew M Humphries Peter P Keegan David D Kenna Paul F PF Farrar G Jane GJ
Genes 20200116 1
The Irish national registry for inherited retinal degenerations (Target 5000) is a clinical and scientific program to identify individuals in Ireland with inherited retinal disorders and to attempt to ascertain the genetic cause underlying the disease pathology. Potential participants first undergo a clinical assessment, which includes clinical history and analysis with multimodal retinal imaging, electrophysiology, and visual field testing. If suitable for recruitment, a sample is taken and use ...[more]