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

• Main Authors: Nicole Weisschuh (Author), Pascale Mazzola (Author), Tilman Heinrich (Author), Tobias Haack (Author), Bernd Wissinger (Author), Felix Tonagel (Author), Carina Kelbsch (Author)
• Format: Book
• Published: BMC, 2020-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...