Atypical Leber’s hereditary optic neuropathy: a case with five different episodes of visual disturbance

Abstract

We report an unusual case of Leber’s hereditary optic neuropathy (LHON) with recurrent episodes of visual disturbance. The patient, a 53-year-old male, was a heavy smoker and alcohol drinker. At the age of 38, he was diagnosed as having bilateral optic neuropathy. After corticosteroid therapy, visual function recovered. By the age of 40, this condition had recurred five times. At the age of 51, he demonstrated decreased visual acuity in both eyes and Goldmann perimetry revealed bilateral cecocentral scotoma. Both optic nerves had blurred margins, a hyperemic appearance, and microangiopathy. A peripheral blood specimen showed a point mutation in mitochondrial DNA at np11778, indicating LHON. The patient was hospitalized for corticosteroid (methylprednisolone) therapy to help him cease smoking and drinking alcohol. After this treatment, his visual acuity recovered. We speculate that the mechanism involved the ATP deficiency theory in which visual disturbance is caused by an ATP deficiency due to a gene defect. The induced stress caused by smoking and drinking diminished during hospitalization due to the cessation of these activities by the patient.