Optic Atrophy, Hereditary, Leber
Recent clinical, regulatory, research and industry developments relating to this disease.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes1
- Optic Atrophy, Hereditary, Leber1
Leading journals1
- Science translational medicine1
Leading researchers8
- Biousse V1
- Blouin L1
- Burguière P1
- Calkins DJ1
- Carelli V1
- Chevalier C1
- Karanjia R1
- Katz B1
Affiliations (unnormalised)6
- Addenbrooke's Hospital1
- Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit1
- Centre Hospitalier National d'Ophtalmologie des Quinze Vingts1
- Doheny Eye Institute and UCLA School of Medicine1
- Emory University School of Medicine1
- Friedrich Baur Institute at the Department of Neurology1
Reference
Authoritative identity, definition & identifiers.
A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.