Leber’s hereditary optic neuropathy A report of two unusual cases

Abstract

Two unusual cases of Leber’s hereditary optic neuropathy (LHON) are reported. The first case was a man with Charcot-Marie-Tooth (CMT) disease since childhood, who was affected with LHON (the 14484 mtDNA mutation) at the age of 45. He had several relatives with CMT, but none with LHON.A genetic interrelationship between these two diseases could not be excluded. The second case was affected with LHON (the 11778 mtDNA mutation) in one eye before the age of 2.5 years and in the other eye at the age of 14. There was no family history of LHON. The early age of onset and long inter-eye delay were remarkable.