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18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Scientific reports - 26 Oct 2024

Kiel Christina, Biasella Fabiola, Stöhr Heidi, Rating Philipp, Spital Georg, Kellner Ulrich, Hufendiek Karsten, Huchzermeyer Cord, Jaegle Herbert, Ruether Klaus, Weber Bernhard H F

Abstract excerpt

Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are characterized by distinct genetic causes and molecular mechanisms that can lead to varying degrees of visual impairment. The discovery of pathogenic variants in numerous genes associated with these conditions has deepened our understanding of the molecular pathways that influence both vision and disease manifestation and may...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 39462066
DOI: 10.1038/s41598-024-77014-4
PMCID: PMC11513943

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