Advances in therapeutic strategies for Leber’s hereditary optic neuropathy

  title={Advances in therapeutic strategies for Leber’s hereditary optic neuropathy},
  author={Rustum Karanjia and Alfredo Arrigo Sadun},
  journal={Expert Opinion on Orphan Drugs},
  pages={1439 - 1446}
Introduction: Leber’s hereditary optic neuropathy (LHON) is a rare mitochondrial disease which preferentially affects the optic nerve. A genetic defect in the mitochondrial DNA encoding complex I of the respiratory chain underlies this genetic disorder. Patients typically present with subacute vision loss in one eye followed by the loss of vision in the second eye approximately 6 weeks later, ultimately leading to blindness. Areas covered: In this review, we discuss failed and active therapies… 
Gene therapy and the adeno‐associated virus in the treatment of genetic and acquired ophthalmic diseases in humans: Trials, future directions and safety considerations
The current status of AAV gene therapy trials in genetic and acquired ocular diseases is discussed, and new scientific developments are explored, which could help ensure effective and safe use of the therapy in the future.


Therapeutic strategies for Leber's hereditary optic neuropathy: A current update.
This commentary gives a brief overview on the current status of tested therapeutics and also addresses future developments such as the use of gene therapy that hopefully will provide safe and efficient therapy options for all LHON patients.
A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy
This first randomized controlled trial in the mitochondrial disorder, Leber’s hereditary optic neuropathy, provides evidence that patients with discordant visual acuities are the most likely to benefit from idebenone treatment, which is safe and well tolerated.
Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies
Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy
In the first complete randomized, placebo-controlled, double-blind clinical trial in LHON, 85 unselected patients with LHON ≥14 years of age were randomized to receive 900 mg/day of idebenone or placebo in a 2:1 ratio for 24 weeks, showing a consistent trend in visual acuity end-points.
Leber hereditary optic neuropathy
The natural history of this optic nerve disorder is described and issues relating to clinical diagnosis, management, and genetic counselling are highlighted and the findings of recently published studies are discussed.
New therapies for optic neuropathies: development in experimental models.
  • J. Guy
  • Medicine
    Current opinion in ophthalmology
  • 2000
Several models of experimental optic neuropathies are reviewed that may aid in the development of novel treatments for neuro-ophthalmic disorders of the optic nerve during the 21st century.
Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.
To ascertain the mitochondrial genetic etiology of the LHON in these families, the nucleotide sequences of the seven mitochondrial genes encoding subunits of respiratory-chain complex I and the mitochondrial cytochrome b gene were determined for representatives of both families and inferred that the Vic2 and Tas2 LHON families are phylogenetically related to each other.
Idebenone treatment in Leber's hereditary optic neuropathy.
To evaluate retrospectively the efficacy of idebenone therapy, the results presented by Klopstock et al. (2011) concerning the RHODOS study on a clinical trial with Idebenone in Leber's hereditary optic neuropathy (LHON) were reviewed.
Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.