Leber hereditary optic neuropathy — Historical report in comparison with the current knowledge

• The first description of Leber hereditary optic neuropathy from 1871 is presented.
• We constructed pedigrees for four families based on Theodor Leber's case report.
• Leber's findings provided the basis for the present-day knowledge of the disease.
• We present the current knowledge about LHON genetics and treatment.

Leber hereditary optic neuropathy (LHON) is a genetic, maternally inherited disease caused by point mutations in the mitochondrial genome. LHON patients present with sudden, painless and usually bilateral loss of vision caused by optic nerve atrophy. The first clinical description of the disease was made by Theodor Leber, a German ophthalmologist, in 1871. Here we present his thorough notes about members of four families and their pedigrees. We also provide insights into the current knowledge about LHON pathology, genetics and treatment in comparison with Leber's findings.