Background: Spontaneous recovery in Leber's hereditary optic neuropathy is rare. Does the clinical course of Leber's hereditary optic neuropathy (LHON) differ between patients with and without spontaneous recovery?
Materials and methods: We compared the clinical and molecular genetic characteristics of 12 visually symptomatic patients having the classical clinical course of LHON who recovered spontaneously with those of 60 who did not.
Results: Classical fundus findings and typical visual field defects were comparable in the two groups; vision improved within 18 months in all cases. The worst visual acuity during the acute stage of LHON was 0.03 in the recovery group. Patients with the 3460 and especially the 14484 mutation had a better chance of recovery. No patient with the 11778 mutation who recovered had secondary mutations. Among patients who recovered women were underrepresented and heteroplasmy was more common. Some families showed a raised rate of clinically affected members with recovery.
Conclusions: The clinical picture of LHON remains the same regardless of whether the patient recovers spontaneously. A higher rate of spontaneous recovery characterizes some families. Spontaneous recovery is rare in women. Heteroplasmy is frequent in patients with recovery. Our results show a better clinical course of LHON in patients with the 11778 mutation without secondary mutations. Prognosis is better if the peripapillary microangiopathy is seen for a relatively long period, and there is only partial optic atrophy.