Original paper
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 DOA harbor pathogenic variants in the OPA1 gene. The mutation spectrum of OPA1 comprises nonsense, canonical and non-canonical splice site, frameshift and...
Paper Details
Title
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report
Published Date
Nov 26, 2020
Journal
Volume
21
Issue
1
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Notes
History