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Arterial sheathing in Leber hereditary optic neuropathy
Henry W Zhou1, Jeffrey G Odel1
1Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York, NY, USA.
American Journal of Ophthalmology Case Reports
|March 4, 2022
Summary
Leber hereditary optic neuropathy (LHON) can present with retinal arterial sheathing, a finding that may appear years after vision loss. This case highlights evolving fundus changes in LHON patients.
Area of Science:
- Ophthalmology
- Genetics
- Neuro-ophthalmology
Background:
- Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease.
- Typically characterized by acute, painless vision loss and optic nerve pallor.
- The 11778 G-A mitochondrial mutation is the most common cause of LHON.
Observation:
- A 46-year-old female with a history of LHON presented with vision loss noted 11 years prior.
- Initial fundus imaging did not show arterial sheathing.
- Genetic testing confirmed the LHON 11778 G-A mutation; ACE was elevated.
Findings:
- At 11-year follow-up, visual acuity was significantly reduced with complete color vision loss.
- Funduscopic examination revealed bilateral optic nerve pallor.
- Retinal examination showed arterial sheathing, diffuse vessel narrowing, and tortuous vessels.
Implications:
- This case demonstrates that retinal arterial sheathing can be a late-onset finding in LHON.
- The findings may expand the known spectrum of funduscopic presentations in LHON.
- Further research is warranted to understand the pathogenesis of these evolving vascular changes in LHON.
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