Leber Hereditary Optic Neuropathy Plus: A Case Report and Review of Literatures

Maryam Sharifian Dorche, Mohammad Reza Khalili, Masood Nomovi, Amirhosein Sharifian Dorche


Background: Leber hereditary optic neuropathy (LHON) is an inherited visual loss and optic atrophy due to mitochondrial mutation. Most of these patients had not any other neurological signs and symptoms more than a visual loss. In a small group of the patients, other neurological manifestations may be occurs. This rare presentation of the disease was named " LHON plus syndromes ."

Case presentation: A 15-year-old boy who was completely healthy until age 9, when he gradually developed painless visual loss in his right eye. After 3 months, similar symptoms occurred in his left eye. Within next 2 years, psychomotor regression happened, and at age 11, very intractable seizures were started. According to physical examination and past medical history, LHON plus syndrome was diagnosed for him.  Management of seizure and other symptomatic treatments were started, and there was a weak response to drugs.

Conclusion: Early diagnosis and ruling out treatable conditions are critical points in these patients. 


Leber hereditary optic neuropathy; refractory epilepsy; mental retardation

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