BACKGROUND Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder with point mutations in mitochondrial DNA which result in loss of vision in young adults. The majority of mutations reported to date are within the genes encoding the subunits of the mitochondrial NADH-quinone oxidoreductase, complex I. Establishment of animal models of LHON should help elucidate mechanism ...

Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), the most common forms of hereditary optic neuropathy, are easily confused, and it is difficult to distinguish one from the other in the clinic, especially in young children. The present study was designed to survey the mutation spectrum of common pathogenic genes (OPA1, OPA3 and mtDNA genes) and to analyze the genotype-p...

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...