OBJECTIVE To describe the patient profiles of the Leber hereditary optic neuropathy (LHON) Gene Therapy Clinical Trial, year 1. This study aims to identify and characterize affected patients and carriers with the G11778A mutation in mitochondrial DNA for planned gene therapy that will use "allotopic expression" by delivering a normal nuclear-encoded ND4 gene into the nuclei of retinal ganglion ...

The mitochondrial haplogroup has been reported to affect the clinical expression of Leber's hereditary optic neuropathy (LHON). The present study aimed to investigate the interaction between mutations and the haplogroup of mitochondrial DNA (mtDNA) in families. Two unrelated families with LHON were enrolled in the study, and clinical, genetic and molecular characterizations were determined in t...

PURPOSE To investigate the spectrum of mitochondrial DNA (mtDNA) mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON), optic atrophy of unknown etiology, and optic neuropathy of known etiology. METHODS Twenty-seven patients from 25 LHON pedigrees, 22 patients with bilateral optic atrophy of unknown etiology, 21 patients with optic neuropathy of known etiology, and 25 ...

Leber's hereditary optic neuropathy (LHON), the most frequent mitochondrial disorder, is mostly due to three mitochondrial DNA (mtDNA) mutations in respiratory chain complex I subunit genes: 3460/ND1, 11778/ND4 and 14484/ND6. Despite considerable clinical evidences, a genetic modifying role of the mtDNA haplogroup background in the clinical expression of LHON remains experimentally unproven. We...

PURPOSE Patients with Leber hereditary optic neuropathy (LHON) and cone-rod dystrophy (CRD) have central vision loss; but CRD damages the retinal photoreceptor layer, and LHON damages the retinal ganglion cell (RGC) layer. Using diffusion MRI, we measured how these two types of retinal damage affect the optic tract (ganglion cell axons) and optic radiation (geniculo-striate axons). METHODS Ad...

PURPOSE In Denmark, the occurrence of Leber hereditary optic neuropathy (LHON) has continuously been monitored since 1944. We provide here a summary of 70 years of data collection including registered lines and subjects by the end of 2012. METHODS Affected individuals were identified from a national register of hereditary eye diseases at the National Eye Clinic (NEC), a tertiary low vision re...

A 20-year-old otherwise healthy male, with a known family history of Leber hereditary optic neuropathy (LHON) presents with acute visual loss in one eye. He is accompanied at his appointment by his elder brother who lost vision in both eyes 3 years earlier and by his sister who is asymptomatic. They all ask you what can possibly be done. The past two decades have witnessed remarkable advances i...

AIMS To investigate pattern of visual recovery of nine patients with Leber's hereditary optic neuropathy (LHON) and a mitochondrial DNA mutation at 11778. METHODS Recovery was judged significant when a gain of two lines or more in the Landolt ring chart, 10 dB or more improvement of the mean deviation of static perimetry, or improvement of critical flicker frequency (CFF) over 35 Hz was shown...

Occipital lobe and calf muscle energy metabolism were studied in vivo by magnetic resonance spectroscopy (31P-MRS) in four members of a family harbouring the mitochondrial DNA G3460A mutation causing Leber's hereditary optic neuropathy (LHON). Three siblings carried 100% mutated mitochondrial DNA (homoplasmy), while their mother had coexistence of mutated and wild-type mitochondrial DNA (hetero...

We appreciate the effort shown by the authors and their comments on our article ‘‘Leber’s Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.’’ Leber’s hereditary optic neuropathy (LHON) is the most common, well-diagnosed, and maternally inherited mitochondrial disease. In this case, we would emphasize the statement that LHON is one of ...