40-year old woman with progressive visual loss and inflammatory cerebrospinal fluid

Abstract

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted mitochondrial disease, which results in subacute bilateral optic atrophy with visual loss. Some LHON carriers present with additional neurological dysfunctions, sometimes with a multiple sclerosis (MS)-like illness. Among various clinical manifestations, optic neuritis is a common early feature of MS, which sometimes culminates in bilateral optic atrophy. We report a 40-year old woman with relapsing and then progressive visual loss and oligoclonal bands in the cerebrospinal fluid, where initially a diagnosis of MS was made. Due to atypical disease course with progressive loss of vision additional diagnostic tests revealed a typical LHON-mutation. We briefly discuss the differential diagnosis of optic neuritis and possible overlapping features of LHON and MS.