Leber’s optic neuropathy associated with disseminated white matter disease: A case report and review

Abstract 

Leber’s hereditary optic neuropathy (LHON), a mitochondrial disease, is clinically characterized by a bilateral subacute loss of central vision consecutive to optic nerve involvement. In some cases of LHON, neurological features are reported including multiple sclerosis-like (MSL) phenotype. We report one additional male patient displaying LHON-MSL associated with the prevalent G11778A mutation and review the cases with expendable data published so far in the literature. We discuss the respective roles of inflammation and energetic metabolism dysregulation in the development of brain lesions. We propose to treat these patients early with both antioxidative and immunosuppressive drugs in order to avoid further handicap.

Keywords: Leber, LHON, MS-like, Multiple sclerosis, Mitochondrial disorder, Immunosuppressive treatment