[Leber's hereditary optic neuropathy after head trauma: a case report]

Area of Science:

• Ophthalmology
• Neurology
• Genetics

Background:

• Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease.
• The G11,778A mutation is a common cause of LHON, typically presenting with acute, painless vision loss.
• Head trauma is rarely reported as a precipitating factor for optic neuropathy in LHON patients.

Observation:

• A previously healthy 34-year-old man experienced blurred vision after a traffic accident causing skull fractures.
• Initial neurological and ophthalmological examinations were normal, but progressive visual acuity decline and right homonymous hemianopsia were noted.
• Subsequent examinations revealed significant vision loss and enlarged visual field defects, prompting further investigation.

Findings:

• Mitochondrial DNA analysis confirmed the G11,778A mutation, leading to a diagnosis of Leber's hereditary optic neuropathy (LHON).
• The patient presented with severe visual impairment and bilateral optic neuropathy, consistent with LHON.
• The case suggests a potential link between head trauma and the manifestation of LHON.

Implications:

• Head trauma may act as a trigger for optic neuropathy in individuals with pre-existing mitochondrial dysfunction due to LHON.
• Asymptomatic carriers of LHON mutations should be counseled to avoid potential precipitating factors like head trauma.
• Further research is needed to elucidate the precise mechanisms by which trauma interacts with mitochondrial dysfunction in LHON.