Title

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

Authors

Hussein Algahtani^1,2,3,*, Bader Shirah⁴, Angham Abdulrhman Abdulkareem^5,6, Fehmida Bibi⁷ Peter Natesan Pushparaj^5,8 & Muhammad Imran Naseer^5,8

Affiliation

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

Email

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

Date

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).

Keywords

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

Citation

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

Edited by

P Kangueane

ISSN

0973-2063

Publisher

Biomedical Informatics

License

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.