[Considering Leber´s hereditary optic neuropathy]

Abstract

Leber´s hereditary optic neuropathy (LHON) disease is a mitochondriopathy characterized by dysfunction and later on degeneration of retinal ganglion cells, in particular those contributing to the papillomacular bundle, leading to optic atrophy. Being devoid of pathognomonic features clinical diagnosis is difficult, but LHON should be suspected in all patients presenting with a clinical picture of bilateral or painless optic neuritis, irrespective of age, and the diagnosis can be confirmed by molecular genetic testing. Since 2105 Idebenone is available as a treatment option and a gene therapy for patients with the pathogenic m.11778G>A mutation has successfully been tested in clinical trials.

Keywords: LHON; Leber´s hereditary optic neuropathy; diagnosis; gene therapy; idebenone.