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

• Prif Awduron: Nicole Weisschuh (Awdur), Pascale Mazzola (Awdur), Tilman Heinrich (Awdur), Tobias Haack (Awdur), Bernd Wissinger (Awdur), Felix Tonagel (Awdur), Carina Kelbsch (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2020-11-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: 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...