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Leber hereditary optic neuropathy presenting as bilateral visual loss and white matter disease



Hussein Algahtani1,2,3,*, Bader Shirah4, Angham Abdulrhman Abdulkareem5,6, Fehmida Bibi7 Peter Natesan Pushparaj5,8 & Muhammad Imran Naseer5,8



1Neurology Section, Department of Medicine, King Abdulaziz Medical City, Jeddah, Saudi Arabia; 2King Abdullah International Medical Research Center, Jeddah, Saudi Arabia; 3College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia; 4Department of Neuroscience, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia; 5Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia; 6Faculty of Science, Department of Biochemistry, King Abdulaziz University, Jeddah 21589, Saudi Arabia; 7Special Infectious Agents Unit, King Fahd Medical Research Centre, King Abdulaziz University, Jeddah 21589, Saudi Arabia; 8Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia; *Corresponding author



Hussein Algahtani - E-mail: hualgahtani@moh.gov.sa

Bader Shirah - E-mail: bashirah@kfshrc.edu.sa

Angham Abdulrhman Abdulkareem - E-mail:aabdulkareem@kau.edu.sa

Fehmida Bibi - E-mail:fnaseer@kau.edu.sa

Peter Natesan Pushparaj - E-mail:pnatesan@kau.edu.sa

Muhammad Imran Naseer - E-mail:minaseer@kau.edu.sa


Article Type

Research Article



Received March 1, 2023; Revised March 31, 2023; Accepted March 31, 2023; Published March 31, 2023



Leber hereditary optic neuropathy (LHON) is a rare maternally inherited mitochondrial disorder that typically affects young male adults in their second and third decades of life. It usually manifests as painless, subacute, progressive, bilateral vision loss, with more than 90% of affected individuals losing their vision before age 50. Compared with other diseases that cause optic neuritis (multiple sclerosis or neuromyelitis optica spectrum disorders), LHON has worsening visual function in the first 6-12 months of disease progression, is predominantly male, the optic nerve is affected bilaterally from onset, there is no gadolinium enhancement on MRI, no response to disease-modifying therapy, and there is a family history of mutation in mitochondrial DNA. In this article, we describe an interesting and challenging case of LHON due to a homoplasmic variant in the MT -CO3 gene that was initially misdiagnosed as a monophasic demyelinating disorder (clinically isolated syndrome vs acute disseminated encephalomyelitis vs neuromyelitis optica spectrum disorders).



MT-CO3; Leber Hereditary Optic Neuropathy; Mitochondrial Inheritance; Acute Disseminated Encephalomyelitis; Saudi Arabia.



Algahtani et al. Bioinformation 19(3): 226-229 (2023)


Edited by

P Kangueane






Biomedical Informatics



This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.