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

URN to cite this document:: urn:nbn:de:bvb:355-epub-594465
DOI to cite this document:: 10.5283/epub.59446

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

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Date of publication of this fulltext: 29 Oct 2024 07:36

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Abstract

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 ...