Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and
genetic complexity. Some children are affected by canonical syndromes, but the majority …

Background: Leber hereditary optic neuropathy (LHON) is a maternally inherited bilaterally
blinding optic neuropathy, predominantly affecting otherwise healthy young individuals …

REVERSE is a randomized, double-masked, sham-controlled, multicenter, phase 3 clinical
trial that evaluated the efficacy of a single intravitreal injection of rAAV2/2-ND4 in subjects …

Purpose To evaluate the efficacy of a single intravitreal injection of rAAV2/2-ND4 in subjects
with visual loss from Leber hereditary optic neuropathy (LHON). Design RESCUE is a …

Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …

Leber hereditary optic neuropathy (LHON) is currently estimated as the most frequent
mitochondrial disease (1 in 27,000–45,000). Its molecular pathogenesis and natural history …

Leber hereditary optic neuropathy (LHON) is an important example of mitochondrial
blindness with the m. 11778G> A mutation in the MT-ND4 gene being the most common …

Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific
degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual …

The aim of this review was to provide an evidence-based approach to frequently asked
questions relating to the risk of transmitting a maternally inherited mitochondrial disorder …

Objective: This work aimed to compare the evolution of visual outcomes in Leber hereditary
optic neuropathy (LHON) patients treated with intravitreal gene therapy to the spontaneous …