Choroidal vascularity index in hereditary optic neuropathies
CONCLUSION: CVI is preserved in DOA and LHON patients, suggesting that even in the chronic phase of the neuropathy the choroidal structure is not irreversibly compromised.
Leber’s Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis
CONCLUSIONS: The G11778A mutation is a prevalent mitochondrial DNA mutation accounting for over half of LHON cases with three primary mutations. Spontaneous visual recovery is rare, and no effective treatment is currently available.
Changes in visual acuity using low vision devices in patients with Leber hereditary optic neuropathy: A retrospective study
CONCLUSION: The use of LVDs and rehabilitation can help patients with LHON to lead a better life and will be more beneficial.
GenEye24: Novel rapid screening test for the top-3 Leber’s Hereditary Optic Neuropathy pathogenic sequence variants
Leber’s Hereditary Optic Neuropathy (LHON) has been mainly (90-95 %) associated to one of three variants: m.3460G>A, m.11778G>A, m.14484T>C. Herein, a screening method was developed for its detection, supporting clinical/therapeutics decision. It relies on real-time PCR with High-Resolution Melting (HRM) analysis. Variant classification is made using HRM Software and quality controls. A total of 101 samples were analyzed. All samples were correctly assigned: 58 wild-type, 35 positive for…
Aberrant neurovascular coupling in Leber’s hereditary optic neuropathy: Evidence from a multi-model MRI analysis
The study aimed to investigate the neurovascular coupling abnormalities in Leber’s hereditary optic neuropathy (LHON) and their associations with clinical manifestations. Twenty qualified acute Leber’s hereditary optic neuropathy (A-LHON, disease duration ≤ 1 year), 29 chronic Leber’s hereditary optic neuropathy (C-LHON, disease duration > 1 year), as well as 37 healthy controls (HCs) were recruited. The neurovascular coupling strength was quantified as the ratio between regional homogeneity…
Considering Leber´s hereditary optic neuropathy
Leber´s hereditary optic neuropathy (LHON) disease is a mitochondriopathy characterized by dysfunction and later on degeneration of retinal ganglion cells, in particular those contributing to the papillomacular bundle, leading to optic atrophy. Being devoid of pathognomonic features clinical diagnosis is difficult, but LHON should be suspected in all patients presenting with a clinical picture of bilateral or painless optic neuritis, irrespective of age, and the diagnosis can be confirmed by…
Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
AAV gene therapy for ocular disease has become a reality with the market authorisation of Luxturna^(TM) for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical trials. Many ocular disorders have a mitochondrial involvement from primary mitochondrial disorders such as Leber hereditary optic neuropathy (LHON), predominantly due to mutations in genes encoding subunits of complex I, to Mendelian and multifactorial ocular conditions such as…