Leber's hereditary optic neuropathy (LHON) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy in young adults. Several mutations in different genes can cause LHON (heterogeneity). The ND6 gene is one of the mitochondrial genes that encodes subunit 6 of complex I of the respiratory chain. This gene is a hot spot gene. Fourteen Persian LHON patients were...

Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder leading to severe visual impairment or even blindness by death of retinal ganglion cells (RGCs). The primary cause of the disease is usually a mutation of the mitochondrial genome (mtDNA) causing a single amino acid exchange in one of the mtDNA-encoded subunits of NADH:ubiquinone oxidoreductase, the first complex of the elec...

Sir, We read the interesting letter by Bianco and colleagues (2015) on their assessment of mtDNA copy number, as a surrogate measure of mitochondrial biogenesis, in families affected with Leber’s hereditary optic neuropathies (LHON) belonging to two independently collected cohorts from southern Italy (Apulia) and Spain. We are very pleased by their confirmatory results of our observations publi...

Leber‘s hereditary optic neuropathy (LHON) is a rare disorder that mainly presents in males their young age. The majority of cases are caused by three primary maternally inherited mtDNA point mutations (m.3460G > A, m.11778G and m.14484T C) affect su­bunits 4, 6, 1 NADH dehydrogenase, respecti­vely. It impairs glutamate transport increases re­active oxygen species production, leading to apop...

We read with interest the article by Bianco et al. about the mitochondrial DNA (mtDNA) copy number in 12 patients with Leber’s hereditary optic neuropathy (LHON) and 18 asymptomatic carriers of the primary LHON mutations m.11778G>A and m.3460G>A, respectively. The authors interpreted the increased mtDNA copy number in lymphocytes as a protective effect in LHON mutation carriers. We have the fol...

Although we appreciate the major interest of Josef Finsterer and Sinda Zarrouk-Mahjoub in our recent publication in Investigative Ophthalmology and Visual Science entitled ‘‘High Mitochondrial DNA Copy Number Is a Protective Factor from Vision Loss in Heteroplasmic Leber’s Hereditary Optic Neuropathy (LHON),’’ we wish to clarify two issues. First, in our published studies, our findings strongly...

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disorder caused by point mutations in mitochondrial DNA (mtDNA). Most cases are due to mutations in genes encoding subunits of the NADH-ubiquinone oxidoreductase that is Complex I of the electron transport chain (ETC). These mutations are located at nucleotide positions 3460, 11778, or 14484 in the mitochondrial genome. The ...

BACKGROUND To characterize the clinical features of Leber's hereditary optic neuropathy (LHON) in Taiwanese patients with the 11778 mutation of mitochondrial DNA (mtDNA). METHODS A retrospective review of the clinical manifestation was undertaken in 13 LHON patients with the 11778 mtDNA mutation from 1994 to 2001 in Chang Gung Memorial Hospital. RESULTS The male-to-female ratio among patien...

OBJECTIVE To investigate auditory neural involvement in patients with Leber's hereditary optic neuropathy (LHON). METHODS Auditory assessment was undertaken in two patients with LHON. One was a 45 year old woman with Harding disease (multiple-sclerosis-like illness and positive 11778mtDNA mutation) and mild auditory symptoms, whose auditory function was monitored over five years. The other wa...