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

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 ...

Source: BMC Medical Genetics - November 26, 2020 Category: Genetics & Stem Cells Authors: Nicole Weisschuh, Pascale Mazzola, Tilman Heinrich, Tobias Haack, Bernd Wissinger, Felix Tonagel and Carina Kelbsch Tags: Case report Source Type: research