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Updated: Jun 27, 2026
08:17
Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Published on: September 22, 2017
[Sudden blindness: consider Leber's hereditary optic neuropathy].
J H Schieving1, B B A de Vries, F Hol
1Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen. j.schieving@cukz.umcn.nl
Nederlands Tijdschrift Voor Geneeskunde
|November 26, 2008
Summary
Leber's hereditary optic neuropathy (LHON) is a genetic condition causing vision loss, often in young males. Early diagnosis is crucial as vision recovery varies significantly with specific mitochondrial DNA mutations.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial genetic disorder.
- It primarily affects young adult males, causing painless, bilateral central vision loss.
- LHON can occasionally present with other neurological and cardiac symptoms.
Observation:
- Three young male patients experienced sequential, severe, painless bilateral visual loss.
- Ophthalmological examinations initially showed no other abnormalities, delaying LHON diagnosis.
- All patients harbored the m.11778G > A mutation in their mitochondrial DNA (mtDNA).
Findings:
- The m.11778G > A mtDNA mutation is a common cause of LHON.
- Vision recovery rates in LHON patients vary widely (4-58%) depending on the specific mutation.
- While mtDNA mutations are necessary, other factors influence LHON's variable penetrance and male predominance.
Implications:
- Early recognition of LHON's clinical spectrum is vital for timely diagnosis.
- Understanding mutation-specific features can inform prognosis and recurrence risk.
- Currently, no definitive treatment exists for LHON, highlighting the need for further research.
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