Leber Hereditary Optic Neuropathy and Stroke-Like Lesions Associated With MT-ND5 m.13513G>A Mutation: A Case Report

Chae Young Lim; Yongsik Sim; Sung Tae Kim

doi:10.13104/imri.2025.0014

Leber Hereditary Optic Neuropathy and Stroke-Like Lesions Associated With MT-ND5 m.13513G>A Mutation: A Case Report

Chae Young Lim, Yongsik Sim, Sung Tae Kim

Department of Radiology

Research output: Contribution to journal › Article › peer-review

Abstract

The m.13513G>A mutation in the ND5 subunit of complex I (MT-ND5 m.13513G>A) is a mitochondrial DNA mutation associated with a range of clinical manifestations including mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and Leber hereditary optic neuropathy (LHON). This report described a rare case of LHON in a 33-year-old female who presented with progressive visual loss. Initially, demyelinating disease was suspected. Ultimately, the MT-ND5 m.13513G>A mutation was identified through next-generation sequencing (NGS). The uniqueness of this case lies in the simultaneous manifestation of LHON and stroke-like lesions, which has rarely been documented in the literature.

Original language	English
Pages (from-to)	120-123
Number of pages	4
Journal	Investigative Magnetic Resonance Imaging
Volume	29
Issue number	2
DOIs	https://doi.org/10.13104/imri.2025.0014
State	Published - Jun 2025

Keywords

Case report
Leber hereditary optic neuropathy
Magnetic resonance imaging
Mitochondrial diseases
MT-ND5 protein

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10.13104/imri.2025.0014

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title = "Leber Hereditary Optic Neuropathy and Stroke-Like Lesions Associated With MT-ND5 m.13513G>A Mutation: A Case Report",

abstract = "The m.13513G>A mutation in the ND5 subunit of complex I (MT-ND5 m.13513G>A) is a mitochondrial DNA mutation associated with a range of clinical manifestations including mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and Leber hereditary optic neuropathy (LHON). This report described a rare case of LHON in a 33-year-old female who presented with progressive visual loss. Initially, demyelinating disease was suspected. Ultimately, the MT-ND5 m.13513G>A mutation was identified through next-generation sequencing (NGS). The uniqueness of this case lies in the simultaneous manifestation of LHON and stroke-like lesions, which has rarely been documented in the literature.",

keywords = "Case report, Leber hereditary optic neuropathy, Magnetic resonance imaging, Mitochondrial diseases, MT-ND5 protein",

author = "Lim, \{Chae Young\} and Yongsik Sim and Kim, \{Sung Tae\}",

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year = "2025",

month = jun,

doi = "10.13104/imri.2025.0014",

language = "English",

volume = "29",

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AU - Kim, Sung Tae

PY - 2025/6

Y1 - 2025/6

N2 - The m.13513G>A mutation in the ND5 subunit of complex I (MT-ND5 m.13513G>A) is a mitochondrial DNA mutation associated with a range of clinical manifestations including mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and Leber hereditary optic neuropathy (LHON). This report described a rare case of LHON in a 33-year-old female who presented with progressive visual loss. Initially, demyelinating disease was suspected. Ultimately, the MT-ND5 m.13513G>A mutation was identified through next-generation sequencing (NGS). The uniqueness of this case lies in the simultaneous manifestation of LHON and stroke-like lesions, which has rarely been documented in the literature.

AB - The m.13513G>A mutation in the ND5 subunit of complex I (MT-ND5 m.13513G>A) is a mitochondrial DNA mutation associated with a range of clinical manifestations including mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and Leber hereditary optic neuropathy (LHON). This report described a rare case of LHON in a 33-year-old female who presented with progressive visual loss. Initially, demyelinating disease was suspected. Ultimately, the MT-ND5 m.13513G>A mutation was identified through next-generation sequencing (NGS). The uniqueness of this case lies in the simultaneous manifestation of LHON and stroke-like lesions, which has rarely been documented in the literature.

KW - Case report

KW - Leber hereditary optic neuropathy

KW - Magnetic resonance imaging

KW - Mitochondrial diseases

KW - MT-ND5 protein

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DO - 10.13104/imri.2025.0014

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JO - Investigative Magnetic Resonance Imaging

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Leber Hereditary Optic Neuropathy and Stroke-Like Lesions Associated With MT-ND5 m.13513G>A Mutation: A Case Report

Abstract

Keywords

UN SDGs

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