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

• Asıl Yazarlar: Nicole Weisschuh (Yazar), Pascale Mazzola (Yazar), Tilman Heinrich (Yazar), Tobias Haack (Yazar), Bernd Wissinger (Yazar), Felix Tonagel (Yazar), Carina Kelbsch (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2020-11-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...