Background: Leber's hereditary optic neuropathy is associated with point mutations in the mitochondrial DNA (mtDNA) that appear to be pathogenetic for this disease. These mutations affect nucleotide positions 3460, 11778 and 14484. Does the clinical course of LHON differ between men, women and children?
Materials and methods: We reviewed the clinical and molecular genetic characteristics of 15 visually symptomatic patients with the clinical diagnosis of LHON (11 women and 4 male children) and compared them with 66 men with LHON.
Results: LHON was confirmed clinically and with molecular genetic methods in all cases. Men, women and children showed no differences: Classic fundus findings and typical visual field defects were equally found in both sexes. However, age at the beginning of the disease, severity of LHON and rate of spontaneous recovery differed between groups. Women were older (19-55 years, average 31.3 years) than men (15-53 years, average 24.3 years) at the beginning of the disease. Women suffered more severely from LHON. Spontaneous recovery of vision in women was extremely rare. Many more women had a LHON-affected mother than men. All the affected children (9-14, average 11.7 years at the beginning of the disease) did not have a good visual outcome.
Conclusions: There are some differences in the course of LHON between men and women, concerning age, severity of LHON and rate of spontaneous recovery. Children may also have an unfavorable prognosis.