Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …

The retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS)
associated with mitochondrial impairment. Retinal involvement occurs in two ways, retinal …

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 …

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 …

Options for the effective treatment of hereditary optic neuropathies have been a long time
coming. The successful launch of the antioxidant idebenone for Leber's Hereditary Optic …

Background/objectives REALITY is an international observational retrospective registry of
LHON patients evaluating the visual course and outcome in Leber hereditary optic …

Hereditary optic neuropathies result from defects in the human genome, both nuclear and
mitochondrial. The two main and most recognised phenotypes are dominant optic atrophy …

Historically, distinct mitochondrial syndromes were recognised clinically by their ocular
features. Due to their predilection for metabolically active tissue, mitochondrial diseases …

Background: RESCUE and REVERSE were 2 Phase 3 clinical trials that assessed the
efficacy and safety of intravitreal gene therapy with lenadogene nolparvovec (rAAV2/2-ND4) …

The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy
(LHON) and Leigh syndrome challenged the longstanding assumption for LHON to be …