Leber hereditary optic neuropathy can mimic neuromyelitis optica

While leber hereditary optic neuropathy (LHON) is a pathology of the optic nerve, it is rarely associated with multiple sclerosis (MS)-like features. In this report, the authors present a case of a 65-year-old African American woman with LHON mimicking neuromyelitis optica (NMO).

The woman was referred to the authors' clinic after sequential subacute onset of simultaneous painless vision loss three months prior. She first noted bilateral lower extremity pain, weakness, and gait imbalance one year before onset of visual symptoms. After an extensive workup by several neurologists, she was diagnosed with idiopathic cervical myelopathy. Subsequently, an MRI showed the NMO IgG antibody was negative. But genetic testing revealed the14484 LHON point mutation. 

Less than 30 cases of LHON presenting with MS-like features have been reported in the last 20 years, and an NMO-like presentation of LHON is rarely described in the literature. While the underlying pathophysiology for LHON associated with MS-like features remains elusive, the volume of case reports seems to support an association between LHON and white matter central nervous system disease.

The authors conclude that the diagnosis of LHON should be considered in all cases of acute or subacute bilateral optic neuropathy, including presumed seronegative NMO.