Autosomal dominant optic atrophy

Background: A 41-year-old male patient presented with slowly progressive bilateral visual loss. Visual acuity was 0.4 in both eyes. Clinical findings: Ophthalmoscopy disclosed symmetrical temporal optic disc pallor in both eyes. Corresponding nerve fiber layer thinning in the temporal and temporoinferior segments in both eyes could be demonstrated by optical coherence tomography. Results: Cranial magnetic resonance imaging and laboratory findings were normal. Molecular diagnostics confirmed the clinical suspicion of autosomal dominant optic atrophy. Conclusion: Defects of the papillomacular bundles in both eyes combined with slowly progressive visual loss are a typical finding in autosomal dominant optic atrophy (Kjer type), for which genetic testing is available. © 2017, Springer-Verlag GmbH Austria.