[Recurrent visual loss in Leber hereditary optic neuropathy: a case report].

Area of Science:

• Ophthalmology
• Genetics
• Neurology

Background:

• Presents an unusual case of Leber's hereditary optic neuropathy (LHON) in a pediatric patient.
• Highlights recurrent episodes of visual loss in a 7-year-old boy.

Observation:

• The patient experienced recurrent acute bilateral optic neuropathy, initially treated with systemic steroids.
• Vision improved with steroids but deteriorated upon cessation; immunosuppressive therapy with azathioprine was later initiated.
• Genetic testing revealed the 11778 mtDNA mutation, confirming LHON in the patient and his younger brother.

Findings:

• Despite the typical profound vision loss in LHON, this patient showed significant visual recovery.
• Recurrences of visual loss are exceptionally rare in LHON patients.
• Corticosteroid treatment improved vision, and immunosuppressive therapy prevented relapse, suggesting a possible inflammatory component.

Implications:

• LHON should be considered in pediatric cases of acute bilateral optic neuropathy.
• The response to anti-inflammatory and immunosuppressive treatments suggests a potential link between LHON and inflammatory optic neuropathies.
• This case expands the understanding of LHON's variable clinical presentation and potential treatment avenues.