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