Case Report
Published September 11, 2017
Article Tools
Article Level Metrics
Share this article
facebook twitter linkedin


Leber hereditary optic neuropathy
refractory epilepsy
mental retardation

How to Cite

Sharifian Dorche, M., Khalili, M. R., Nomovi, M., & Sharifian Dorche, A. (2017). Leber Hereditary Optic Neuropathy Plus: A Case Report and Review of Literatures. Internal Medicine and Medical Investigation Journal, 2(3), 108-111.

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.


-Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, et al. Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet. 2006;78:564–574.

- Guerriero S, Vetrugno M, Ciracì L, Artuso L, Dell'aglio R, Petruzzella V. Bilateral progressive visual loss in an epileptic, mentally retarded boy.Middle East Afr J Ophthalmol. 2011 Jan;18(1):67-70.

- Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros PA, Sadun F, et al. Extensive investigation of a large Brazilian pedigree of 11778 haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol. 2003;136:231–8.

- Nakaso K, Adachi Y, Fusayasu E, Doi K, Imamura K, Yasui K, et al, Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA. J Clin Neurol. 2012 Sep;8(3):230-4.

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.