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

5 May 2021

Abstract excerpt

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 diagnosis (phenotype and genotype), thus an efficient and effective pathway for assessment and management is required. METHODS: Using...

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PMID: 33952326
DOI: 10.1186/s13023-021-01841-1

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