Studies on Leber's optic neuropathy III

Abstract

Neurological investigations, HLA-typing and viral antibody studies were performed in patients with Leber's optic neuropathy (LON), in individuals at risk to develop the disease, in obligatory (female) carriers of the disease, and compared with controls. The only relevant findings were an excess of minor neurological abnormalities in patients with LON and in some individuals from the at risk group. Occasionally, an association of LON and a multiple sclerosis-like picture was observed.

Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities

“…Mackey et al (1996), in their multicenter analysis of mitochondrial DNA (mtDNA) in LHON pedigrees also exclude the "LHON-plus" pedigrees. On the other hand, De Weerdt and Went (1971), Novotny et al (1986), Palan et al (1989), and, most notably, the Finnish group (see Nikoskelainen et al, 1995), have presented evidence that extra-ophthalmological, particularly neurological and ECG abnormalities, belong to the spectrum of manifestations of LHON, even in the absence of optic atrophy. De Weerdt and Went (1971) presented nine patients (six from Van Senus' 1963 pedigrees and three from other publications) with a multiple sclerosis (MS)-like picture from families with classical LHON, eight of whom were female.…”

“…Palan et al (1989) Riordan-Eva and Harding (1995) discussed the different reports involving the possible effect of tobacco or alcohol abuse (and secondary vitamin B deficiencies) on optic nerve disease, suggesting that the background might be an abnormality of cyanide metabolism caused by a deficiency of the enzyme rhodanese (thiosulfate-sulfur transferase). Conflicting as the studies were in this respect, Riordan-Eva and Harding found it prudent to advise subjects at risk of developing LHON to refrain from tobacco smoking and heavy alcohol consumption.…”