First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report

Abstract Background Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that form the optic nerve. Approximately 45–90% of affected individuals with...

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Bibliographic Details
Main Authors: Nicole Weisschuh, Pascale Mazzola, Tilman Heinrich, Tobias Haack, Bernd Wissinger, Felix Tonagel, Carina Kelbsch
Format: Article
Language:English
Published: BMC 2020-11-01
Series:BMC Medical Genetics
Subjects:
Case report
Inversion
Complex rearrangement
Dominant optic atrophy
OPA1
Non-homologous end joining (NHEJ)
Online Access:http://link.springer.com/article/10.1186/s12881-020-01166-z

Internet

http://link.springer.com/article/10.1186/s12881-020-01166-z

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