Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber’s hereditary optic neuropathy

2015 ◽  
Vol 253 (9) ◽  
pp. 1591-1600 ◽  
Author(s):  
Lucia Ziccardi ◽  
Vincenzo Parisi ◽  
Daniela Giannini ◽  
Federico Sadun ◽  
Anna Maria De Negri ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Optic Neuropathy ◽  
Nerve Fibers ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Electrophysiological Evidence ◽  
Central Retina ◽  
Multifocal Vep ◽  
Hereditary Optic Neuropathy

scholarly journals Progress in Gene Therapy to Prevent Retinal Ganglion Cell Loss in Glaucoma and Leber’s Hereditary Optic Neuropathy

2018 ◽  
Vol 2018 ◽  
pp. 1-11 ◽  
Author(s):  
Sara E. Ratican ◽  
Andrew Osborne ◽  
Keith R. Martin
Keyword(s):  
Gene Therapy ◽  
Clinical Trials ◽  
Optic Nerve ◽  
Genome Editing ◽  
Optic Neuropathy ◽  
Single Gene ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Potential Use ◽  
Hereditary Optic Neuropathy

The eye is at the forefront of the application of gene therapy techniques to medicine. In the United States, a gene therapy treatment for Leber’s congenital amaurosis, a rare inherited retinal disease, recently became the first gene therapy to be approved by the FDA for the treatment of disease caused by mutations in a specific gene. Phase III clinical trials of gene therapy for other single-gene defect diseases of the retina and optic nerve are also currently underway. However, for optic nerve diseases not caused by single-gene defects, gene therapy strategies are likely to focus on slowing or preventing neuronal death through the expression of neuroprotective agents. In addition to these strategies, there has also been recent interest in the potential use of precise genome editing techniques to treat ocular disease. This review focuses on recent developments in gene therapy techniques for the treatment of glaucoma and Leber’s hereditary optic neuropathy (LHON). We discuss recent successes in clinical trials for the treatment of LHON using gene supplementation therapy, promising neuroprotective strategies that have been employed in animal models of glaucoma and the potential use of genome editing techniques in treating optic nerve disease.

scholarly journals Leber's hereditary optic neuropathy plus, case report

2020 ◽  
pp. 101-102
Author(s):  
Д.Г. Короткова ◽  
М.И. Карпова ◽  
Г.В. Буянова ◽  
Т.Н. Кашко
Keyword(s):  
Case Report ◽  
Optic Nerve ◽  
Optic Neuropathy ◽  
Clinical Case ◽  
Mitochondrial Disorder ◽  
Neurological Symptoms ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Optic Nerve Atrophy ◽  
Hereditary Optic Neuropathy

Наследственная оптическая невропатия Лебера (LHON) - митохондриальное заболевание с атрофией зрительного нерва. Хотя в большинстве случаев LHON других ассоциированных неврологических отклонений нет, сообщалось о случаях LHON plus. В статье представлен анализ клинического случая с проявлением неврологических симптомов в подростковом возрасте. Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder with optic nerve atrophy. Although there are no other associated neurological abnormalities in most cases of LHON, cases of “LHON plus” have been reported. The article presents an analysis of clinical case with the manifestation of neurological symptoms in adolescence.

Screening for Leber's hereditary optic neuropathy associated mitochondrial DNA mutations in patients with prominent optic neuritis

1997 ◽  
Vol 2 (6) ◽  
pp. 279-282 ◽  
Author(s):  
Bernadette Kalman ◽  
Jose Luis Rodriguez-Valdez ◽  
Ursula Bosch ◽  
Fred D Lublin
Keyword(s):  
Optic Nerve ◽  
Optic Neuritis ◽  
Optic Neuropathy ◽  
Case Reports ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mt Dna ◽  
Distinct Subgroup ◽  
Dna Mutations ◽  
Hereditary Optic Neuropathy

Previous case reports demonstrated the presence of Leber's hereditary optic neuropathy (LHON) associated mitochondrial (mt) DNA mutations in patients presenting with prominent optic neuritis (PON). By screening the mtDNA, we have excluded vie presence of these mutations in 22 patients with PON, indicating that the frequency of these mutations is less than 4.5% in our selected patient population. Reviewing the clinical data of these patients revealed that severe optic nerve atrophy developed in association with both the benign and the severely disabling form of Multiple Sclerosis (MS). This observation suggests that the prominent feature of ON in MS may be related to local factors or to a selective vulnerability of the optic nerve in some patients. However, it also may be a consequence of a deleterious process associated with inflammatory demyelination in the central nervous system (CNS) of another, genetically probably distinct subgroup of severely disabled patients.

scholarly journals Changes in Visual Function and Correlations with Inner Retinal Structure in Acute and Chronic Leber’s Hereditary Optic Neuropathy Patients after Treatment with Idebenone

2021 ◽  
Vol 10 (1) ◽  
pp. 151
Author(s):  
Berthold Pemp ◽  
Christoph Mitsch ◽  
Karl Kircher ◽  
Andreas Reitner
Keyword(s):  
Optic Neuropathy ◽  
Visual Function ◽  
Therapeutic Potential ◽  
Nerve Fibers ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Visual Recovery ◽  
Leber's Hereditary Optic Neuropathy ◽  
Chronic Patients ◽  
Retinal Structure ◽  
Hereditary Optic Neuropathy

Progressive impairment and degeneration of retinal ganglion cells (RGC) and nerve fibers in Leber’s hereditary optic neuropathy (LHON) usually cause permanent visual loss. Idebenone is currently the only approved treatment. However, its therapeutic potential in different stages of LHON has not been definitely clarified. We aimed to investigate the changes in visual function and correlations with retinal structure in acute and in chronic LHON patients after treatment with idebenone. Twenty-three genetically confirmed LHON patients were followed during treatment using logMAR charts, automated perimetry and optical coherence tomography (OCT). Mean visual acuity improved significantly in acute patients treated within 1 year from onset (−0.52 ± 0.46 logMAR from nadir), in early chronic patients who started after 1–5 years (−0.39 ± 0.27 logMAR from baseline), and in late chronic patients with treatment initiation after >5 years (−0.33 ± 0.28 logMAR from baseline, p < 0.001 all groups). In acute and in chronic patients, strong correlations between OCT and visual function parameters were present only after treatment. This and the sustained visual recovery after treatment may indicate a reactivated signal transduction in dysfunctional RGC that survive the acute phase. Our results support previous evidence that idebenone has therapeutic potential in promoting visual recovery in LHON.

Antibodies to human optic nerve in Leber's hereditary optic neuropathy

1995 ◽  
Vol 130 (2) ◽  
pp. 134-138 ◽  
Author(s):  
P.R. Smith ◽  
J.M. Cooper ◽  
G.G. Govan ◽  
P. Riordan-Eva ◽  
A.E. Harding ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Human Optic Nerve ◽  
Hereditary Optic Neuropathy

scholarly journals The Evaluation of Optic Nerves Using 7 Tesla “Silent” Zero Echo Time Imaging in Patients with Leber’s Hereditary Optic Neuropathy with or without Idebenone Treatment

2020 ◽  
Vol 9 (4) ◽  
pp. 1112 ◽  
Author(s):  
Cezary Grochowski ◽  
Mark Symms ◽  
Kamil Jonak ◽  
Paweł Krukow ◽  
Tobias C Wood ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Magnetic Resonance ◽  
Optic Neuropathy ◽  
Local Magnetic Field ◽  
7 Tesla ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Echo Time ◽  
Magnetic Resonance Imaging Mri ◽  
Hereditary Optic Neuropathy

Magnetic Resonance Imaging (MRI) of the Optic Nerve is difficult due to the fine extended nature of the structure, strong local magnetic field distortions induced by anatomy, and large motion artefacts associated with eye movement. To address these problems we used a Zero Echo Time (ZTE) MRI sequence with an Adiabatic SPectral Inversion Recovery (ASPIR) fat suppression pulse which also imbues the images with Magnetisation Transfer contrast. We investigated an application of the sequence for imaging the optic nerve in subjects with Leber’s hereditary optic neuropathy (LHON). Of particular note is the sequence’s near-silent operation, which can enhance image quality of the optic nerve by reducing the occurrence of involuntary saccades induced during Magnetic Resonance (MR) scanning.

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