Leber's hereditary optic neuropathy - A report of two unusual cases

Two unusual cases of Leber's hereditary optic neuropathy (LHON) are reporte d. The first case was a man with Charcot-Marie-Tooth (CMT) disease since ch ildhood, who was affected with LHON (the 14484 mtDNA mutation) at the age o f 45. He had several relatives with CMT, but none with LHON. A genetic inte rrelationship between these two diseases could not be excluded. The second case was affected with LHON (the 11778 mtDNA mutation) in one eye before th e age of 2 1/2 years and in the other eye at the age of 14. There was no fa mily history of LHON. The early age of onset and long inter-eye delay were remarkable.