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Leber hereditary optic neuropathy - historical report in comparison with the current knowledge
Agnieszka Piotrowska1, Magdalena Korwin2, Ewa Bartnik3
1Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 5a Pawińskiego Street, 02-106 Warsaw, Poland.
Gene
|September 28, 2014
Summary
Leber hereditary optic neuropathy (LHON) is a rare genetic vision loss disease. This study examines historical family records and compares them with current understanding of LHON
Area of Science:
- Ophthalmology
- Genetics
- Mitochondrial Diseases
Background:
- Leber hereditary optic neuropathy (LHON) is a maternally inherited optic nerve disease.
- It results from specific point mutations in the mitochondrial DNA.
- Patients experience sudden, painless vision loss due to optic nerve atrophy.

