Browsing by Subject "Inherited retinal degenerations"
Now showing items 1-3 of 3
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Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing
(2022)Although rare, inherited retinal degenerations (IRDs) are the most common reason for blind registration in the working age population. They are highly genetically heterogeneous (>300 known genetic loci), and confirmation ... -
On the Genotype and Phenotype of inherited retinal degenerations in an irish popultion
(Trinity College Dublin. School of Medicine. Discipline of Clinical Medicine, 2021)Aim: To elucidate the molecular diagnosis and perform deep phenotyping on patients with inherited retinal degenerations (IRDs) Methods: Patients were identified through self-referral or referral by an ophthalmologist ... -
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations
(2021)Introduction: Inherited retinal degenerations (IRD) are rare genetic disorders with > 300 known genetic loci, mani- festing variably progressive visual dysfunction. IRDs were historically underserved due to lack of effective ...