Neurological Studies in Families With Leber's Optic Atrophy

In this study 289 individuals from 5 pedigrees with Leber's optic atrophy (L. O. A.) were examined neurologically and the symptoms observed were expressed by numerical values, according to an arbitrary number scale; 34 of the 289 were patients suffering from the optic atrophy. Of these 34 patients with L. O. A., 24 were found to have minor neurological abnormalities, a finding which was corroborated by an analysis of previously published reports. A gradual decline in the percentage of individuals with abnormalities was observed in different groups in the following order: Leber patients–brothers of Leber patients–sisters of Leber patients–group of individuals connected through females to the pedigrees (“female line” group)–external control group–group of individuals connected through males to the pedigrees (“male line” group or internal control group). Three of the pedigrees were included in the study because in each of them a patient with a severe neurological disorder was present, diagnosed as spastic paraplegia (1) and multiple sclerosis (2). Evidence is presented that the association, mostly in females, of Leber's optic atrophy and a multiple sclerosis-like neurological disorder cannot be coincidental. Leber's optic atrophy seems to be an affection of the central nervous system not necessarily restricted to the optic nerves.