Related Experiment Videos
Late-onset Leber's hereditary optic neuropathy
1Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.
Summary
Late-onset Leber's hereditary optic neuropathy (LHON) can occur in older adults. A 73-year-old male developed progressive vision loss, diagnosed as LHON due to a specific genetic mutation.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial disease.
- Typically affects young males, causing rapid vision loss.
Observation:
- A 73-year-old male presented with progressive, sequential visual loss over three months.
- Symptoms affected the left eye, then the right eye.
- Bilateral cecocentral scotomata were observed without other significant findings.
Findings:
- Diagnosis of new onset Leber's hereditary optic neuropathy (LHON).
- Confirmed by the presence of a mutation at the 11,778 position.
- Family history of visual loss was noted.
Implications:
- This case highlights that LHON can manifest in late adulthood.
- Challenges the typical age-of-onset profile for LHON.
- Emphasizes the importance of genetic testing for suspected optic neuropathies in older individuals.