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Trauma-Associated Leber Hereditary Optic Neuropathy.

Supanut Apinyawasisuk¹, Jane W Chan², Anthony C Arnold³

¹UCLA Department of Ophthalmology, Stein Eye Institute, Los Angeles, California, USA; Department of Ophthalmology, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

Neuro-Ophthalmology (Aeolus Press)

|December 9, 2016

Summary

Trauma may trigger Leber hereditary optic neuropathy (LHON) in a young man, causing vision loss and chiasm abnormalities. Genetic testing confirmed the 11778 mutation, highlighting trauma

Keywords:

Chiasmal enlargement LHON MRI abnormality trauma

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Area of Science:

Neuro-ophthalmology
Genetics
Neurology

Background:

Leber hereditary optic neuropathy (LHON) is a mitochondrial disease typically causing acute, painless central vision loss.
Traumatic optic neuropathy can result from direct or indirect head trauma, leading to visual impairment.
The optic chiasm, where optic nerves partially cross, is crucial for visual field processing.

Observation:

A 19-year-old male experienced progressive vision loss in both eyes after a martial arts head injury.
Initial examination revealed normal fundus but visual field deficits suggestive of chiasm involvement.
Brain MRI showed an enlarged optic chiasm with intrinsic signal abnormalities.

Findings:

Despite treatment with corticosteroids and hyperbaric oxygen, visual recovery was not achieved.
Genetic testing identified the LHON 11778 mutation, confirming the diagnosis.
The case presents a rare instance of optic chiasm signal abnormalities in LHON.

Implications:

This case suggests that physical trauma may act as a precipitating factor for LHON.
It underscores the importance of considering genetic testing in young individuals with unexplained optic neuropathy following trauma.
The findings expand the understanding of optic chiasm involvement in LHON.