BACKGROUND Leber hereditary optic neuropathy (LHON) is an inherited form of bilateral optic atrophy leading to the loss of central vision. The primary cause of vision loss is mutation in the mitochondrial DNA (mtDNA), however, unknown secondary genetic and/or epigenetic risk factors are suggested to influence its neuropathology. In this study folate gene polymorphisms were examined as a possibl...

Leber's hereditary optic neuropathy (LHON) is typically characterized by vascular alterations in the acute phase. The aim of this study was to evaluate choroidal changes occurring in asymptomatic, acute and chronic stages of LHON. We enrolled 49 patients with LHON, 19 with Dominant Optic Atrophy (DOA) and 22 healthy controls. Spectral Domain-Optical Coherence Tomography (SD-OCT) scans of macula...

Leber’s hereditary optic neuropathy (LHON) is characterised by acute or subacute central visual loss that typically occurs in early adult life. Three mitochondrial DNA (mtDNA) point mutations, 3460, 11778, and 14484, account for more than 90% of all LHON cases. Cardiac involvement in LHON has been suspected ever since Leber’s original 1871 report in which some patients with the disease complain...

The striking similarity of disc edema without leakage on fluorescein angiography, which is pathognomonic Leber hereditary optic neuropathy (LHON), was present in a patient with cystic fibrosis antibiotic toxic neuropathy. This suggested the common effect oxidative stress retinal ganglion cells inherited mitochondrial and neuropathies. We case advanced chronic treatment who experienced rapid pai...

A young Thai male presented with bilateral visual loss and disc pallor. The 14484 mutation responsible for Leber's hereditary optic neuropathy (LHON) was identified on blood mitochondrial analysis. His visual loss was more severe than the visual loss described in Caucasian and Japanese patients and showed no improvement. He had no other identifiable mutations related to LHON nor any associated ...

Leber inherited optic neuropathy (LHON) is characterized by subacute bilateral loss of central vision due to dysfunction and loss of retinal ganglion cells (RGCs). Comprehensive visual electrophysiological investigations (including pattern reversal visual evoked potentials, pattern electroretinography and the photopic negative response) performed on 13 patients with acute and chronic LHON indic...

With interest we read the article by Bianco et al. about the contribution of the mutation load and mtDNA copy number on the penetrance of primary Leber’s hereditary optic neuropathy (LHON) mutations in 30 affected patients. We have the following comments and concerns. A main clinical feature of LHON is reduced visual acuity. However, according to Table 1, only 11 of 30 patients had reduced visu...

Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial disease caused by mutations in DNA affecting the respiratory complex I and leading to death of retinal ganglion cells (RGCs) [1]. It characterized sudden onset usually severe bilateral loss central vision, predominantly young men [2]. The risk vision 50% among 10% women who carry LHON primary [3]. We report an atypic case 11 years old ...

BACKGROUND Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy that leads to central loss of vision, predominantly in young males. Most LHON cases have one of three primary point mutations in mitochondrial DNA (mtDNA). The annual incidence and prevalence of LHON in Japan are not known. Thus, we estimated the annual incidence of molecularly confirmed LHON in Japan...

Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder with bilateral loss of central vision primarily due to mitochondrial DNA (mtDNA) mutations in subunits of complex I in the respiratory chain (primary LHON mutations), while other mtDNA mutations can also be causative. Since the first description, it is known that LHON is not restricted to the eyes but is...