Clinical observations of Leber hereditary optic neuropathy with and without neurological symptoms

Abstract

Three case studies of adults with Leber hereditary optic neuropathy with and without neurological symptoms are presented. An elevated blood lactate level and changes in the activity of the mitochondrial enzymes in peripheral blood lymphocytes were noted. Mutations in the mitochondrial DNA (G3460A in one patient and G11778A in two patients) were found. The patient with a G3460A mutation, in addition to reduced visual acuity, was diagnosed with a cerebellar disorder due to cerebellar vermis hypoplasia. These changes are indications for prescribing energotropic drugs (idebenone, carnitine); carnosine can also be prescribed. These case studies show that patients with optic nerve atrophy should be assessed for Leber hereditary optic neuropathy. Differential diagnosis with multiple sclerosis should be performed, since this condition often presents as optic neuropathy.